(used for variant description)
(last modified November 15, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_198335.3 in the GANAB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_053018.1, covering GANAB transcript NM_198335.3.
(upstream sequence)
g.5007
agacagc c.-121
. . . . . . g.5067
tgcccggcggcgctcaggtcgaaccaatcataaggccggaaggggcgggaactaggatac c.-61
. . . . . . g.5127
gtggctgagcgcgcgcgatggggcgggaggtttggggtcaaggagcaaactctgcacaag c.-1
. . . | 02 . . g.12017
ATGGCGGCGGTAGCGGCAGTGGCGGCGCGTAGGAGGCG | GTCTTGGGCGTCTTTGGTACTG c.60
M A A V A A V A A R R R R | S W A S L V L p.20
. . . . . . g.12077
GCTTTTTTAGGGGTCTGCCTGGGGATTACCCTTGCTGTGGATAGAAGCAACTTTAAGACC c.120
A F L G V C L G I T L A V D R S N F K T p.40
. . | 03 . . . . g.12296
TGTGAAGAGAGTTCTTTCTGCAA | GCGACAGAGAAGCATACGGCCAGGCCTCTCTCCATAC c.180
C E E S S F C K | R Q R S I R P G L S P Y p.60
. . . . . . g.12356
CGAGCCTTGCTGGACTCTCTACAGCTTGGTCCTGATTCCCTCACGGTCCATCTGATCCAT c.240
R A L L D S L Q L G P D S L T V H L I H p.80
. | 04 . . . . . g.12664
GAGGTCACCAAG | GTGTTGCTGGTGCTAGAGCTTCAGGGGCTTCAAAAGAACATGACTCGG c.300
E V T K | V L L V L E L Q G L Q K N M T R p.100
. . . . . . g.12724
TTCAGGATTGATGAGCTGGAGCCTCGGCGACCCCGATACCGTGTACCAGATGTTTTGGTG c.360
F R I D E L E P R R P R Y R V P D V L V p.120
. . | 05 . . . . g.16766
GCTGATCCACCAATAGCCCG | GCTTTCTGTCTCTGGTCGTGATGAGAACAGTGTGGAGTTA c.420
A D P P I A R | L S V S G R D E N S V E L p.140
. . . . . . g.16826
ACCATGGCTGAGGGACCCTACAAGATCATCTTGACAGCACGGCCATTCCGCCTTGACCTA c.480
T M A E G P Y K I I L T A R P F R L D L p.160
. . . . . . g.16886
CTAGAGGACCGAAGTCTTTTGCTTAGTGTCAATGCCCGAGGACTCTTGGAGTTTGAGCAT c.540
L E D R S L L L S V N A R G L L E F E H p.180
. . | 06 . . . . g.17391
CAGAGGGCCCCTAGGGTCTC | TTTCTCGGATAAGGTTAATCTCACGCTTGGTAGCATATGG c.600
Q R A P R V S | F S D K V N L T L G S I W p.200
. . | 07 . . . . g.18246
GATAAGATCAAGAACCTTTTCTCTAG | GCAAGGATCAAAAGACCCAGCTGAGGGCGATGGG c.660
D K I K N L F S R | Q G S K D P A E G D G p.220
. . . | 08 . . . g.18479
GCCCAGCCTGAGGAAACACCCAGGGATGGCGACAAG | CCAGAGGAGACTCAGGGGAAGGCA c.720
A Q P E E T P R D G D K | P E E T Q G K A p.240
. . . . . . g.18539
GAGAAAGATGAGCCAGGAGCCTGGGAGGAGACATTCAAAACTCACTCTGACAGCAAGCCG c.780
E K D E P G A W E E T F K T H S D S K P p.260
| 09 . . . . . . g.18681
TATG | GCCCCATGTCTGTGGGTTTGGACTTCTCTCTGCCAGGCATGGAGCATGTCTATGGG c.840
Y G | P M S V G L D F S L P G M E H V Y G p.280
. . . . | 10 . . g.19000
ATCCCTGAGCATGCAGACAACCTGAGGCTGAAGGTCACTGA | GGGTGGGGAGCCATATCGC c.900
I P E H A D N L R L K V T E | G G E P Y R p.300
. . . . . . g.19060
CTCTACAATTTGGATGTGTTCCAGTATGAGCTGTACAACCCAATGGCCTTGTATGGGTCT c.960
L Y N L D V F Q Y E L Y N P M A L Y G S p.320
. . . . . . g.19120
GTGCCTGTGCTCCTGGCACACAACCCTCATCGCGACTTGGGCATCTTCTGGCTCAATGCT c.1020
V P V L L A H N P H R D L G I F W L N A p.340
. . . . | 11 . . g.20561
GCAGAGACCTGGGTTGATATATCTTCCAACACTGCCGGGAAG | ACCCTGTTTGGGAAGATG c.1080
A E T W V D I S S N T A G K | T L F G K M p.360
. . . . . . g.20621
ATGGACTACCTGCAGGGCTCTGGGGAGACCCCACAGACAGATGTTCGCTGGATGTCAGAG c.1140
M D Y L Q G S G E T P Q T D V R W M S E p.380
. . . . . . g.20681
ACTGGCATCATTGACGTCTTCCTGCTGCTGGGGCCCTCCATCTCTGATGTTTTCCGGCAA c.1200
T G I I D V F L L L G P S I S D V F R Q p.400
. | 12 . . . . . g.20934
TATGCTAGTCTCACAG | GAACCCAGGCGTTGCCCCCACTCTTCTCCCTCGGCTACCACCAG c.1260
Y A S L T G | T Q A L P P L F S L G Y H Q p.420
. . . . . . g.20994
AGCCGTTGGAACTACCGGGACGAGGCTGATGTGCTGGAAGTGGATCAGGGCTTTGATGAT c.1320
S R W N Y R D E A D V L E V D Q G F D D p.440
. . . . . . g.21054
CACAACCTGCCCTGTGATGTCATCTGGCTAGACATTGAACATGCTGATGGCAAGCGGTAT c.1380
H N L P C D V I W L D I E H A D G K R Y p.460
. . . . . . g.21114
TTCACCTGGGACCCCAGTCGCTTCCCTCAGCCCCGCACCATGCTTGAGCGCTTGGCTTCT c.1440
F T W D P S R F P Q P R T M L E R L A S p.480
. | 13 . . . . . g.21269
AAGAGGCGGAAG | CTGGTGGCCATCGTAGACCCCCACATCAAGGTGGACTCCGGCTACCGA c.1500
K R R K | L V A I V D P H I K V D S G Y R p.500
. . . . . . g.21329
GTTCACGAGGAGCTGCGGAACCTGGGGCTGTATGTTAAAACCCGGGATGGCTCTGACTAT c.1560
V H E E L R N L G L Y V K T R D G S D Y p.520
. | 14 . . . . g.21491
GAGGGCTGGTGCTGGCCAG | GCTCAGCTGGTTACCCTGACTTCACTAATCCCACGATGAGG c.1620
E G W C W P G | S A G Y P D F T N P T M R p.540
. . . | 15 . . g.21790
GCCTGGTGGGCTAACATGTTCAGCTATGACAATTATGAG | GGCTCAGCTCCCAACCTCTTT c.1680
A W W A N M F S Y D N Y E | G S A P N L F p.560
. . . . . . g.21850
GTCTGGAATGACATGAACGAACCATCTGTGTTCAATGGTCCTGAGGTCACCATGCTCAAG c.1740
V W N D M N E P S V F N G P E V T M L K p.580
. . . . . . g.21910
GATGCCCAGCATTATGGGGGCTGGGAGCACCGGGATGTGCATAACATCTATGGCCTTTAT c.1800
D A Q H Y G G W E H R D V H N I Y G L Y p.600
| 16 . . . . . . g.22099
GTG | CACATGGCGACTGCTGATGGGCTGAGACAGCGCTCTGGGGGCATGGAACGCCCCTTT c.1860
V | H M A T A D G L R Q R S G G M E R P F p.620
. . . . | 17 . . g.22451
GTCCTGGCCAGGGCCTTCTTCGCTGGCTCCCAGCGCTTTG | GAGCCGTGTGGACAGGGGAC c.1920
V L A R A F F A G S Q R F G | A V W T G D p.640
. . . . . . g.22511
AACACTGCCGAGTGGGACCATTTGAAGATCTCTATTCCTATGTGTCTCAGCTTGGGGCTG c.1980
N T A E W D H L K I S I P M C L S L G L p.660
. . | 18 . . . . g.22752
GTGGGACTTTCCTTCTGTGGGG | CGGATGTGGGTGGCTTCTTCAAAAACCCAGAGCCAGAG c.2040
V G L S F C G A | D V G G F F K N P E P E p.680
. . . . . . g.22812
CTGCTTGTGCGCTGGTACCAGATGGGTGCTTACCAGCCATTCTTCCGGGCACATGCCCAC c.2100
L L V R W Y Q M G A Y Q P F F R A H A H p.700
. . . . . . g.22872
TTGGACACTGGGCGACGAGAGCCATGGCTGTTACCATCTCAGCACAATGATATAATCCGA c.2160
L D T G R R E P W L L P S Q H N D I I R p.720
. . . . . . g.22932
GATGCCTTGGGCCAGCGATATTCTTTGCTGCCCTTCTGGTACACCCTCTTATATCAGGCC c.2220
D A L G Q R Y S L L P F W Y T L L Y Q A p.740
. . | 19 . . . . g.24407
CATCGGGAAGGCATTCCTGTCATGAG | GCCCCTGTGGGTGCAGTACCCTCAGGATGTGACT c.2280
H R E G I P V M R | P L W V Q Y P Q D V T p.760
. . . | 20 . . . g.24631
ACCTTCAATATAGATGATCAGTACTTGCTTG | GGGATGCGTTGCTGGTTCACCCTGTATCA c.2340
T F N I D D Q Y L L G | D A L L V H P V S p.780
. . . . | 21 . g.24804
GACTCTGGAGCCCATGGTGTCCAGGTCTATCTGCCTGGCCAAGGGGAG | GTGTGGTATGAC c.2400
D S G A H G V Q V Y L P G Q G E | V W Y D p.800
. . . . . . g.24864
ATTCAAAGCTACCAGAAGCATCATGGTCCCCAGACCCTGTACCTGCCTGTAACTCTAAGC c.2460
I Q S Y Q K H H G P Q T L Y L P V T L S p.820
| 22 . . . . . . g.25099
AGT | ATCCCTGTGTTCCAGCGTGGAGGGACAATCGTGCCTCGATGGATGCGAGTGCGGCGG c.2520
S | I P V F Q R G G T I V P R W M R V R R p.840
. . . . . | 23. g.25282
TCTTCAGAATGTATGAAGGATGACCCCATCACTCTCTTTGTTGCACTTAGCCCTCAG | GGT c.2580
S S E C M K D D P I T L F V A L S P Q | G p.860
. . . . . . g.25342
ACAGCTCAAGGAGAGCTCTTTCTGGATGATGGGCACACGTTCAACTATCAGACTCGCCAA c.2640
T A Q G E L F L D D G H T F N Y Q T R Q p.880
. . . . . | 24 . g.25571
GAGTTCCTGCTGCGTCGATTCTCATTCTCTGGCAACACCCTTGTCTCCAG | CTCAGCAGAC c.2700
E F L L R R F S F S G N T L V S S | S A D p.900
. . . . . . g.25631
CCTGAAGGACACTTTGAGACACCAATCTGGATTGAGCGGGTGGTGATAATAGGGGCTGGA c.2760
P E G H F E T P I W I E R V V I I G A G p.920
. . . | 25 . . . g.25831
AAGCCAGCAGCTGTGGTACTCCAGACAAAAG | GATCTCCAGAAAGCCGCCTGTCCTTCCAG c.2820
K P A A V V L Q T K G | S P E S R L S F Q p.940
. . . . . . g.25891
CATGACCCTGAGACCTCTGTGTTGGTCCTGCGCAAGCCTGGCATCAATGTGGCATCTGAT c.2880
H D P E T S V L V L R K P G I N V A S D p.960
. . g.25912
TGGAGTATTCACCTGCGATAA c.2901
W S I H L R X p.966
. . . . . . g.25972
cccaagggatgttctgggttagggggagggaaggggagcattagtgctgagagatattct c.*60
. . . . . . g.26032
ttcttctgccttggagttcggccctccccagacttcacttatgctagtctaagacccaga c.*120
. . . . . . g.26092
ttctgccaacatttgggcaggatgagagggctgaccctgggctccaaattcctcttgtga c.*180
. . . . . . g.26152
tctcctcacctctcccactccattgataccaactctttcccttcattcccccaacatcct c.*240
. . . . . . g.26212
gttgctctaactggagcacattcacttacgaacaccaggaaaccacagggcccttgtcgc c.*300
. . . . . . g.26272
cccttctctttcccttatttaggagccctgaactcccccagagtctatccattcatgcct c.*360
. . . . . . g.26332
cttgtatgttgatgccacttcttggaagaagatgagggcaatgagttagggctccttttc c.*420
. . . . . . g.26392
cccttccctcccaccagattgctctcccacctttcatttcttcctccaggctttactccc c.*480
. . . . . . g.26452
ctttttatgccccaccgatacactgggaccaccccttaccccggacaggatgaatggatc c.*540
. . . . . . g.26512
aaaggagtgaggttgctaaagaacatccttttccctctcattctacccttttcctctccc c.*600
. . . . . . g.26572
cgattccttgtagagctgctgcaattcttagaggggcagttctacctcctctgtccctcg c.*660
. . . . . . g.26632
gcagaaagacgtttccacacctcttaggggatgcgcattaaacttcttttgcccccttct c.*720
. . . . . . g.26692
tgtcccctttgaggggcacttaagatggagaaatcagttgtggtttcagtgaatcatggt c.*780
. . . . . . g.26752
cacctgtatttattgctaggagaagcctgagggtggggggagatgatcatgtgtgctcgg c.*840
. . . . . . g.26812
ggttggctggaagccctgggtggggggttgggggaggactaatggggagtcggggaatat c.*900
. . . . . . g.26872
ttgtgggtattttttttacttcctcttggttcccagctgtgacacgttttgatcaaagga c.*960
. . g.26901
gaaacaataaagggataaaccataaataa c.*989
(downstream sequence)
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