(used for variant description)
(last modified September 28, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_021949.3 in the ATP2B3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015896.1, covering ATP2B3 transcript NM_021949.3.
(upstream sequence)
g.5006
gtgtcc c.-121
. . . . . . g.5066
acgcttagcagctttctcaccgccgccaaaccttgcctgggcactgggaccgtgggtggc c.-61
. . . . . . g.5126
cgcctgtccctagctgtggctgagccaagattgcacttgtgagaaggcctgacaggcagc c.-1
. . . . . . g.5186
ATGGGCGACATGGCCAATAGTTCCATCGAGTTCCACCCCAAGCCCCAGCAGCAGCGGGAT c.60
M G D M A N S S I E F H P K P Q Q Q R D p.20
. . . . . . g.5246
GTCCCCCAGGCTGGAGGCTTTGGGTGCACGCTGGCGGAGCTGCGCACCCTCATGGAGCTG c.120
V P Q A G G F G C T L A E L R T L M E L p.40
. . . . . . g.5306
CGAGGGGCCGAGGCGCTGCAGAAGATCGAGGAGGCCTACGGGGATGTCAGCGGGCTCTGC c.180
R G A E A L Q K I E E A Y G D V S G L C p.60
. . | 02 . . . g.10269
CGGAGGCTGAAGACCTCACCCACAGAGG | GCCTGGCGGACAACACCAATGACCTGGAGAAG c.240
R R L K T S P T E G | L A D N T N D L E K p.80
. . . . . . g.10329
CGCAGGCAGATCTACGGGCAGAACTTCATCCCCCCAAAGCAACCCAAGACCTTCCTGCAG c.300
R R Q I Y G Q N F I P P K Q P K T F L Q p.100
. . . . . . g.10389
CTGGTGTGGGAGGCCCTGCAGGACGTGACCCTCATCATCCTGGAGGTGGCTGCCATCGTC c.360
L V W E A L Q D V T L I I L E V A A I V p.120
. . . . | 03 . . g.10561
TCTCTGGGCCTCTCGTTCTATGCGCCGCCAGGAGAGGAGAGTGAAG | CCTGTGGGAATGTG c.420
S L G L S F Y A P P G E E S E A | C G N V p.140
. . . . . . g.10621
TCGGGAGGCGCAGAAGATGAGGGCGAGGCCGAAGCTGGCTGGATCGAGGGGGCTGCCATC c.480
S G G A E D E G E A E A G W I E G A A I p.160
. . . . . . g.10681
CTGCTGTCCGTCATCTGTGTGGTGCTGGTCACGGCCTTCAATGACTGGAGCAAGGAGAAG c.540
L L S V I C V V L V T A F N D W S K E K p.180
. . . . . . g.10741
CAGTTCCGAGGCCTGCAGAGCCGAATTGAGCAGGAGCAGAAGTTCACGGTCATCCGGAAC c.600
Q F R G L Q S R I E Q E Q K F T V I R N p.200
. . . . . . g.10801
GGGCAGCTCCTCCAGGTCCCCGTGGCTGCGCTGGTGGTGGGGGACATTGCCCAGGTCAAG c.660
G Q L L Q V P V A A L V V G D I A Q V K p.220
| 04 . . . . . . g.11257
TACG | GCGACCTGCTGCCAGCCGACGGCGTGCTCATCCAGGCCAATGACCTCAAGATCGAC c.720
Y G | D L L P A D G V L I Q A N D L K I D p.240
. . . . . . g.11317
GAGAGCTCCCTGACGGGCGAGTCTGACCACGTGCGCAAGTCAGCTGACAAAGATCCCATG c.780
E S S L T G E S D H V R K S A D K D P M p.260
. | 05 . . . . . g.11971
CTGCTCTCAG | GCACTCATGTCATGGAAGGTTCTGGAAGAATGGTGGTGACCGCCGTTGGC c.840
L L S G | T H V M E G S G R M V V T A V G p.280
. . . . . . g.12031
GTGAATTCCCAGACAGGCATCATCTTCACGCTGCTTGGAGCTGGCGGAGAGGAGGAAGAG c.900
V N S Q T G I I F T L L G A G G E E E E p.300
. | 06 . . . . | 07 g.16715
AAGAAAGATAAGAAAG | GCAAGCAGCAGGATGGGGCCATGGAGAGTAGCCAGACCAAAG | CT c.960
K K D K K G | K Q Q D G A M E S S Q T K A | p.320
. . . . . . g.16775
AAGAAGCAGGATGGTGCAGTGGCCATGGAGATGCAGCCCCTGAAGAGCGCGGAGGGTGGG c.1020
K K Q D G A V A M E M Q P L K S A E G G p.340
. . . . . . g.16835
GAGATGGAGGAGCGGGAGAAGAAGAAAGCCAACGCACCCAAAAAGGAGAAGTCTGTCCTT c.1080
E M E E R E K K K A N A P K K E K S V L p.360
. . . . | 08 . . g.17535
CAGGGGAAGCTCACAAAGCTAGCCGTGCAGATCGGGAAAGCAG | GGCTGGTGATGTCTGCC c.1140
Q G K L T K L A V Q I G K A G | L V M S A p.380
. . . . . . g.17595
ATCACCGTCATCATCCTGGTCCTCTACTTTGTGATTGAGACGTTTGTCGTGGAAGGCCGG c.1200
I T V I I L V L Y F V I E T F V V E G R p.400
. . . . . . g.17655
ACATGGCTGGCAGAGTGCACGCCGGTCTATGTACAATACTTCGTGAAGTTCTTCATCATT c.1260
T W L A E C T P V Y V Q Y F V K F F I I p.420
. . . . . . g.17715
GGTGTCACTGTGCTGGTCGTGGCTGTCCCAGAGGGCCTGCCTCTTGCTGTCACCATCTCC c.1320
G V T V L V V A V P E G L P L A V T I S p.440
. | 09 . . . . g.18417
TTAGCTTACTCTGTCAAG | AAAATGATGAAAGACAACAACCTGGTGCGCCACCTGGATGCC c.1380
L A Y S V K | K M M K D N N L V R H L D A p.460
. . . . . . g.18477
TGCGAGACCATGGGCAACGCCACAGCCATCTGCTCCGACAAGACGGGCACGCTCACCACC c.1440
C E T M G N A T A I C S D K T G T L T T p.480
. . . . . . g.18537
AACCGTATGACCGTGGTCCAGTCCTACCTAGGAGACACCCACTACAAAGAGATTCCGGCC c.1500
N R M T V V Q S Y L G D T H Y K E I P A p.500
. . . . . . g.18597
CCCAGCGCCCTGACCCCTAAGATCCTCGACCTCCTGGTCCATGCCATCTCCATCAACAGT c.1560
P S A L T P K I L D L L V H A I S I N S p.520
. . | 10 . . . . g.18962
GCCTATACCACCAAAATACTA | CCTCCTGAGAAGGAAGGCGCCCTCCCACGCCAGGTGGGC c.1620
A Y T T K I L | P P E K E G A L P R Q V G p.540
. . . . . . g.19022
AATAAGACGGAGTGCGCCCTGCTGGGCTTCGTCTTGGACCTGAAGCGGGACTTCCAGCCC c.1680
N K T E C A L L G F V L D L K R D F Q P p.560
. . . . . . g.19082
GTGCGCGAGCAGATCCCGGAAGACAAGCTTTACAAAGTGTACACCTTCAACTCGGTCCGC c.1740
V R E Q I P E D K L Y K V Y T F N S V R p.580
. . . . . . g.19142
AAGTCCATGAGCACAGTCATCCGCATGCCCGACGGTGGCTTCCGCCTCTTCAGCAAGGGG c.1800
K S M S T V I R M P D G G F R L F S K G p.600
. . | 11 . . . . g.21950
GCCTCAGAGATCCTCTTGAAAAA | GTGCACCAACATCTTGAACAGCAATGGCGAACTCCGG c.1860
A S E I L L K K | C T N I L N S N G E L R p.620
. . . . . . g.22010
GGCTTTCGGCCTCGGGACCGGGACGACATGGTGAGGAAGATCATCGAGCCGATGGCTTGC c.1920
G F R P R D R D D M V R K I I E P M A C p.640
. . . . . . g.22070
GATGGCCTCCGCACCATCTGCATCGCCTACCGGGACTTCTCTGCAGGCCAGGAGCCCGAC c.1980
D G L R T I C I A Y R D F S A G Q E P D p.660
. . . . . . g.22130
TGGGACAACGAGAATGAGGTCGTGGGTGACCTCACCTGCATAGCTGTCGTGGGCATTGAG c.2040
W D N E N E V V G D L T C I A V V G I E p.680
. | 12 . . . . g.24969
GACCCTGTGCGGCCCGAG | GTCCCTGAAGCTATCCGAAAATGCCAGCGTGCTGGCATCACA c.2100
D P V R P E | V P E A I R K C Q R A G I T p.700
. . . . . . g.25029
GTCCGCATGGTGACTGGGGACAACATCAACACGGCCCGGGCCATCGCAGCCAAATGCGGC c.2160
V R M V T G D N I N T A R A I A A K C G p.720
. . . . . . g.25089
ATCATCCAGCCCGGGGAGGACTTCCTGTGCCTAGAAGGGAAGGAGTTCAACCGGCGGATC c.2220
I I Q P G E D F L C L E G K E F N R R I p.740
. | 13 . . . . g.25251
CGCAATGAGAAAGGCGAG | ATAGAACAGGAGCGGCTGGACAAGGTGTGGCCCAAGCTGAGG c.2280
R N E K G E | I E Q E R L D K V W P K L R p.760
. . . . | 14 . . g.25809
GTGCTGGCCCGGTCGTCTCCCACCGACAAGCACACACTGGTCAAAG | GGATTATCGACAGC c.2340
V L A R S S P T D K H T L V K G | I I D S p.780
. . . . . . g.25869
ACCACTGGTGAGCAGCGGCAGGTGGTGGCTGTGACAGGGGATGGCACCAACGATGGGCCG c.2400
T T G E Q R Q V V A V T G D G T N D G P p.800
. . . | 15 . . . g.27017
GCCCTCAAGAAGGCGGACGTGGGCTTCGCCATG | GGCATCGCAGGGACCGACGTGGCCAAG c.2460
A L K K A D V G F A M | G I A G T D V A K p.820
. . . . . . g.27077
GAGGCCTCCGACATCATCCTGACCGATGACAACTTCACCAGCATCGTCAAGGCAGTCATG c.2520
E A S D I I L T D D N F T S I V K A V M p.840
. . . . . . g.27137
TGGGGCCGTAACGTCTATGACAGCATCTCCAAGTTCCTGCAGTTTCAACTGACGGTCAAT c.2580
W G R N V Y D S I S K F L Q F Q L T V N p.860
. . . . | 16 . . g.28622
GTGGTGGCTGTGATCGTGGCCTTCACAGGTGCCTGCATTACTCAG | GACTCTCCTCTCAAA c.2640
V V A V I V A F T G A C I T Q | D S P L K p.880
. . . . . . g.28682
GCCGTGCAGATGTTGTGGGTGAACTTGATCATGGACACATTTGCCTCTCTGGCCCTGGCG c.2700
A V Q M L W V N L I M D T F A S L A L A p.900
. . . . . . g.28742
ACGGAGCCACCCACAGAGTCGCTGCTGCTGCGGAAGCCGTACGGCCGCGACAAGCCCCTC c.2760
T E P P T E S L L L R K P Y G R D K P L p.920
. . . . . . g.28802
ATCTCCCGCACCATGATGAAGAACATTCTGGGCCACGCCGTGTACCAGCTCGCCATCATC c.2820
I S R T M M K N I L G H A V Y Q L A I I p.940
. | 17 . . . . g.29595
TTCACCCTGCTGTTTGTCG | GGGAGCTCTTCTTCGACATCGACAGCGGGAGGAATGCGCCC c.2880
F T L L F V G | E L F F D I D S G R N A P p.960
. . . . . . g.29655
CTGCACTCGCCACCCTCAGAGCACTACACCATCATCTTCAACACGTTCGTCATGATGCAG c.2940
L H S P P S E H Y T I I F N T F V M M Q p.980
. . . . . . g.29715
CTCTTTAACGAGATCAACGCCCGCAAGATCCACGGCGAGAGGAACGTGTTCGACGGCATC c.3000
L F N E I N A R K I H G E R N V F D G I p.1000
. . . . . | 18 . g.31022
TTCAGCAACCCCATCTTCTGCACCATCGTTTTGGGCACTTTCGGGATTCAG | ATTGTCATC c.3060
F S N P I F C T I V L G T F G I Q | I V I p.1020
. . . . . . g.31082
GTCCAGTTTGGCGGGAAGCCCTTCAGCTGCTCCCCACTATCCACAGAACAGTGGCTCTGG c.3120
V Q F G G K P F S C S P L S T E Q W L W p.1040
. . . | 19 . . g.33820
TGCCTGTTTGTTGGTGTTGGGGAGCTGGTCTGGGGACAG | GTCATTGCCACCATCCCCACC c.3180
C L F V G V G E L V W G Q | V I A T I P T p.1060
. . . . . . g.33880
AGCCAGCTCAAGTGCCTGAAGGAAGCCGGGCACGGGCCCGGGAAGGACGAGATGACCGAC c.3240
S Q L K C L K E A G H G P G K D E M T D p.1080
. . . . . . g.33940
GAGGAGCTGGCCGAAGGCGAGGAAGAGATCGACCATGCCGAGCGGGAGCTCCGCAGGGGC c.3300
E E L A E G E E E I D H A E R E L R R G p.1100
. . . . | 20 . . g.38499
CAGATCCTCTGGTTCCGGGGCCTGAACCGGATTCAGACGCAG | ATGGAGGTAGTGAGTACC c.3360
Q I L W F R G L N R I Q T Q | M E V V S T p.1120
. . . . . . g.38559
TTCAAGAGAAGCGGTTCAGTTCAGGGTGCTGTGCGCCGGCGGTCTTCGGTCCTCAGCCAG c.3420
F K R S G S V Q G A V R R R S S V L S Q p.1140
. . . . . . g.38619
CTTCATGACGTAACCAATCTTTCTACCCCTACTCACGCAATTCTCTCTGCTGCCAATCCT c.3480
L H D V T N L S T P T H A I L S A A N P p.1160
. | 21 . . . g.48900
ACCAGTGCTGCTGGGA | ATCCGGGTGGTGAAAGCGTTCCGTAG c.3522
T S A A G N | P G G E S V P X p.1173
. . . . . . g.48960
ctcgctctatgaaggcctggagaaaccagaatccaagacctccattcacaacttcatggc c.*60
. . . . . . g.49020
cacgcccgagtttctgatcaatgactacacccacaacatcccgctcattgacgacacgga c.*120
. . . . . . g.49080
cgtggacgagaacgaggagcgcctccgggcccccccgcccccgtcccccaaccagaacaa c.*180
. . . . . . g.49140
caacgccatagacagcggcatctacctgaccacgcatgtcaccaagtcagctacctcttc c.*240
. . . . . . g.49200
agtgttttcctccagtcccgggagcccgctccacagcgtggagacgtccctctaacaaga c.*300
. . . . . . g.49260
acttgtctcagcacatgcgcacacgcacactcggactcacacgaagtcacacgcacacat c.*360
. . . . . . g.49320
gcacgcacacacacatatggggacctgcacacctgcaaaacgagggaacaactaaggtgg c.*420
. . . . . . g.49380
ctgaagacctttctggcagggcatttgcaaggacccaaatccattcaacaagggtgcagc c.*480
. . . . . . g.49440
ctgccacaggctcctcatccggactgaggaagacgaggacagggaggaggaaaaggagga c.*540
. . . . . . g.49500
agaggaggacaaaaagggggaggagaaggttcttcgtccaaaggaggaaggagaagaagt c.*600
. . . . . . g.49560
agaaagtgcgaagagctgagttccccacctttttttctattgatgcttcttttttaacaa c.*660
. . . . . . g.49620
actacagttttaccgtgtgtttgccatttgagctgtgtggtgggcagggggctggtttgg c.*720
. . . . . . g.49680
gtttatggggagcttttgttgcacccatgcaggggcaatcagatcagcatcttcatgcaa c.*780
. . . . . . g.49740
aaaaaaaaaaaaagttgagtgctctgcaggcctgtgaagggtgccacctgagggagccgc c.*840
. . . . . . g.49800
ctgcaagcggccctgcagccacaaagcaacccgccctctgcaaaaactaggcacatccgc c.*900
. . . . . . g.49860
agtgcgcatgtgtgtgcgtgcatgcacatatgtgtatgtgtgtggatctgtacacacaca c.*960
. . . . . . g.49920
cgtatatatggccagatgcgtatttcaataaggaactatttactggcatgatatttgcat c.*1020
. . . . . . g.49980
tcctcttatcaggcattttcatttggaaatttcattattgaatgtagcaaggttgtagtt c.*1080
. . . . . . g.50040
gtttttttttttttttcagggaactagactgcaagaatatctttctggtcaacccatttt c.*1140
. . . . . . g.50100
tgtccctcatcaccccgcccccacctttcgctcctgccctctgcccggccctactgagat c.*1200
. . . . . . g.50160
tcccaaggagaaggccgagagggggcgctccaggtctggagcaggtataattggagcatt c.*1260
. . . . . . g.50220
tgcactgagacccctgccagagaggagaaaaccctttcaagggaaattttaatctaaaag c.*1320
. . . . . . g.50280
gaaaaaaccaaaatattgatgagaaggagtcctccagttagtgaaaggggagtttcgttt c.*1380
. . . . . . g.50340
tcagctttctttggttcctactccaattccacatccttcatcctggccatgcccccacct c.*1440
. . . . . . g.50400
tcaagagcatgaagcactcttggagttgtgggtcctgcccagagtccagagagcagcctc c.*1500
. . . . . . g.50460
agctgagcacaggtccgagggggcgggggcagggccaagagttcaaaagaagccaatgga c.*1560
. . . . . . g.50520
gggagagggagcgtcagaagcccggaggagctggtggtgggagaatgacggcagggacgc c.*1620
. . . . . . g.50580
agccacagttcagaccctgtcccctcagcacctggatggactcccactgtttgctttggc c.*1680
. . . . . . g.50640
aaatgccgaggagtcctcggtagaccaccttgatgtctgctgtgacatcagaggtgccac c.*1740
. . . . . . g.50700
caccaaagcactcttcccaccctagtctttgtgtccagcggccaagcttaagccatgaag c.*1800
. . . . . . g.50760
tcatggatttgtggctcagcaccaggtcctgaggggagcgtatcctggcagtgtgggcac c.*1860
. . . . . . g.50820
ctggtggccaagcctcagtttcccccaaatgagcaaaggggataaagaggggcccgactt c.*1920
. . . . . . g.50880
ttgccaccctcctgaggaagcccctaggtccacacagtgatgccatgggggacccttgcc c.*1980
. . . . . . g.50940
ttccacacttgcaggtgtcacgttttgcagggaggtgtttgggccttgggctcagccact c.*2040
. . . . . . g.51000
gggagacagttgggacctgagggacagaggatcggaatggaaaccaccaacgtgcactgg c.*2100
. . . . . . g.51060
caccctcagaaggcttgtctcacctccaccggcatccacacaaaaccaaacaggagcagg c.*2160
. . . . . . g.51120
cgtcatccccactattcccatgaatgccatgtcacccctgagcagaagcagtcaaatctt c.*2220
. . . . . . g.51180
gggcaaaagaatttcggttagaaaagaaaatcccactttaaaatgccagctgcagataac c.*2280
. . . . . . g.51240
tcaaagccatcccttttttctaaagggcacattgagaatgtcacccatttgtaaactgtt c.*2340
. . . . . . g.51300
ccctgatgtccttgtttaaacgataataagaaaaagggcaactccatttgttgagggtct c.*2400
. . . . . . g.51360
ttgtgttcttcaatgagaaatcaaatttgagacgttgaaattggagctgcgtgctgctgc c.*2460
. . . . . . g.51420
actcaccggcttcttctcactctctgtcgtagacacaccgataggaccaatggccaatag c.*2520
. . . . . . g.51480
atattaaaagcaaaccctcactgctgctgtataaagttgcctaatgtaaatgtctattgt c.*2580
. . . . . . g.51540
ttagtccctaggtcacctttgtgctgtgctgtggagttcagaaacggggtaccatgacct c.*2640
. . . . . . g.51600
ggaatcttttgctcttgtttttgcagtcttcaaggctgggggccctgtctcattgggaag c.*2700
. . . . . . g.51660
cccctctttataaagcattatattacttggaatggcttggtcaactgtgttcagttcata c.*2760
. . . . . . g.51720
aatatgttttacatttttatctgcctgttataaagatgaacaaaaaaacttaatgagaaa c.*2820
. . . . . . g.51780
gatcacagatacgtaataatttaaagtctgtagttgaatttcctaacttaaagaatagac c.*2880
. . . . g.51826
caaaatttctgtgtataaaaaaaaatgaaaggctccttacatcctg c.*2926
(downstream sequence)
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