(used for variant description)
(last modified May 23, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000342.3 in the SLC4A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007498.1, covering SLC4A1 transcript NM_000342.3.
(upstream sequence)
. . g.5029
gaacgagtgggaacgtagctggtcgcaga c.-121
. . . . . . | 02 g.10208
gggcaccagcggctgcaggacttcaccaagggaccctgaggctcgtgagcag | ggacccgc c.-61
. . . . . . g.10268
ggtgcgggttatgctgggggctcagatcaccgtagacaactggacactcaggaccacgcc c.-1
. | 03 . . . . . g.10453
ATGGAGGAGCTGCAG | GATGATTATGAAGACATGATGGAGGAGAATCTGGAGCAGGAGGAA c.60
M E E L Q | D D Y E D M M E E N L E Q E E p.20
. . . . | 04 . . g.11512
TATGAAGACCCAGACATCCCCGAGTCCCAGATGGAGGAGCCGGCAG | CTCACGACACCGAG c.120
Y E D P D I P E S Q M E E P A A | H D T E p.40
. . . . | 05 . g.12331
GCAACAGCCACAGACTACCACACCACATCACACCCGGGTACCCACAAG | GTCTATGTGGAG c.180
A T A T D Y H T T S H P G T H K | V Y V E p.60
. . . . . . g.12391
CTGCAGGAGCTGGTGATGGACGAAAAGAACCAGGAGCTGAGATGGATGGAGGCGGCGCGC c.240
L Q E L V M D E K N Q E L R W M E A A R p.80
. . . . . . g.12451
TGGGTGCAACTGGAGGAGAACCTGGGGGAGAATGGGGCCTGGGGCCGCCCGCACCTCTCT c.300
W V Q L E E N L G E N G A W G R P H L S p.100
. . . . | 06 . g.12606
CACCTCACCTTCTGGAGCCTCCTAGAGCTGCGTAGAGTCTTCACCAAGG | GTACTGTCCTC c.360
H L T F W S L L E L R R V F T K G | T V L p.120
. . . . . . g.12666
CTAGACCTGCAAGAGACCTCCCTGGCTGGAGTGGCCAACCAACTGCTAGACAGGTTTATC c.420
L D L Q E T S L A G V A N Q L L D R F I p.140
. . . . . . g.12726
TTTGAAGACCAGATCCGGCCTCAGGACCGAGAGGAGCTGCTCCGGGCCCTGCTGCTTAAA c.480
F E D Q I R P Q D R E E L L R A L L L K p.160
| 07 . . . . . . g.13257
CACAG | CCACGCTGGAGAGCTGGAGGCCCTGGGGGGTGTGAAGCCTGCAGTCCTGACACGC c.540
H S | H A G E L E A L G G V K P A V L T R p.180
. . . . . . g.13317
TCTGGGGATCCTTCACAGCCTCTGCTCCCCCAACACTCCTCACTGGAGACACAGCTCTTC c.600
S G D P S Q P L L P Q H S S L E T Q L F p.200
| 08 . . . . . g.13604
TGTGAGCAG | GGAGATGGGGGCACAGAAGGGCACTCACCATCTGGAATTCTGGAAAAGATT c.660
C E Q | G D G G T E G H S P S G I L E K I p.220
. . . | 09 . . . g.13816
CCCCCGGATTCAGAGGCCACGTTGGTGCTAGTGG | GCCGCGCCGACTTCCTGGAGCAGCCG c.720
P P D S E A T L V L V G | R A D F L E Q P p.240
. . . . . . g.13876
GTGCTGGGCTTCGTGAGGCTGCAGGAGGCAGCGGAGCTGGAGGCGGTGGAGCTGCCGGTG c.780
V L G F V R L Q E A A E L E A V E L P V p.260
. . . . . . g.13936
CCTATACGCTTCCTCTTTGTGTTGCTGGGACCTGAGGCCCCCCACATCGATTACACCCAG c.840
P I R F L F V L L G P E A P H I D Y T Q p.280
. . . | 10 . . . g.14535
CTTGGCCGGGCTGCTGCCACCCTCATGTCAGAGAGG | GTGTTCCGCATAGATGCCTACATG c.900
L G R A A A T L M S E R | V F R I D A Y M p.300
. . . . . . g.14595
GCTCAGAGCCGAGGGGAGCTGCTGCACTCCCTAGAGGGCTTCCTGGACTGCAGCCTAGTG c.960
A Q S R G E L L H S L E G F L D C S L V p.320
. . . . . . g.14655
CTGCCTCCCACCGATGCCCCCTCCGAGCAGGCACTGCTCAGTCTGGTGCCTGTGCAGAGG c.1020
L P P T D A P S E Q A L L S L V P V Q R p.340
. . . . . . g.14715
GAGCTACTTCGAAGGCGCTATCAGTCCAGCCCTGCCAAGCCAGACTCCAGCTTCTACAAG c.1080
E L L R R R Y Q S S P A K P D S S F Y K p.360
| 11. . . . . . g.15007
GGCCTAG | ACTTAAATGGGGGCCCAGATGACCCTCTGCAGCAGACAGGCCAGCTCTTCGGG c.1140
G L D | L N G G P D D P L Q Q T G Q L F G p.380
. . . . . . g.15067
GGCCTGGTGCGTGATATCCGGCGCCGCTACCCCTATTACCTGAGTGACATCACAGATGCA c.1200
G L V R D I R R R Y P Y Y L S D I T D A p.400
. . . . . . g.15127
TTCAGCCCCCAGGTCCTGGCTGCCGTCATCTTCATCTACTTTGCTGCACTGTCACCCGCC c.1260
F S P Q V L A A V I F I Y F A A L S P A p.420
. . | 12 . . . . g.15365
ATCACCTTCGGCGGCCTCCTGG | GAGAAAAGACCCGGAACCAGATGGGAGTGTCGGAGCTG c.1320
I T F G G L L G | E K T R N Q M G V S E L p.440
. . . . . . g.15425
CTGATCTCCACTGCAGTGCAGGGCATTCTCTTCGCCCTGCTGGGGGCTCAGCCCCTGCTT c.1380
L I S T A V Q G I L F A L L G A Q P L L p.460
. . . . . | 13 . g.15599
GTGGTCGGCTTCTCAGGACCCCTGCTGGTGTTTGAGGAAGCCTTCTTCTCG | TTCTGCGAG c.1440
V V G F S G P L L V F E E A F F S | F C E p.480
. . . . . . g.15659
ACCAACGGTCTAGAGTACATCGTGGGCCGCGTGTGGATCGGCTTCTGGCTCATCCTGCTG c.1500
T N G L E Y I V G R V W I G F W L I L L p.500
. . . . . . g.15719
GTGGTGTTGGTGGTGGCCTTCGAGGGTAGCTTCCTGGTCCGCTTCATCTCCCGCTATACC c.1560
V V L V V A F E G S F L V R F I S R Y T p.520
. . . . . . g.15779
CAGGAGATCTTCTCCTTCCTCATTTCCCTCATCTTCATCTATGAGACTTTCTCCAAGCTG c.1620
Q E I F S F L I S L I F I Y E T F S K L p.540
| 14 . . . . . . g.17342
ATCAAG | ATCTTCCAGGACCACCCACTACAGAAGACTTATAACTACAACGTGTTGATGGTG c.1680
I K | I F Q D H P L Q K T Y N Y N V L M V p.560
. . . . . . g.17402
CCCAAACCTCAGGGCCCCCTGCCCAACACAGCCCTCCTCTCCCTTGTGCTCATGGCCGGT c.1740
P K P Q G P L P N T A L L S L V L M A G p.580
. . . . . . g.17462
ACCTTCTTCTTTGCCATGATGCTGCGCAAGTTCAAGAACAGCTCCTATTTCCCTGGCAAG c.1800
T F F F A M M L R K F K N S S Y F P G K p.600
| 15 . . . . . . g.17898
| CTGCGTCGGGTCATCGGGGACTTCGGGGTCCCCATCTCCATCCTGATCATGGTCCTGGTG c.1860
| L R R V I G D F G V P I S I L I M V L V p.620
. . . | 16 . . . g.18502
GATTTCTTCATTCAGGATACCTACACCCAG | AAACTCTCGGTGCCTGATGGCTTCAAGGTG c.1920
D F F I Q D T Y T Q | K L S V P D G F K V p.640
. . . . . . g.18562
TCCAACTCCTCAGCCCGGGGCTGGGTCATCCACCCACTGGGCTTGCGTTCCGAGTTTCCC c.1980
S N S S A R G W V I H P L G L R S E F P p.660
. . . . . . g.18622
ATCTGGATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTG c.2040
I W M M F A S A L P A L L V F I L I F L p.680
. | 17. . . . . g.19806
GAGTCTCAGATCACCAC | GCTGATTGTCAGCAAACCTGAGCGCAAGATGGTCAAGGGCTCC c.2100
E S Q I T T | L I V S K P E R K M V K G S p.700
. . . . . . g.19866
GGCTTCCACCTGGACCTGCTGCTGGTAGTAGGCATGGGTGGGGTGGCCGCCCTCTTTGGG c.2160
G F H L D L L L V V G M G G V A A L F G p.720
. . . . . . g.19926
ATGCCCTGGCTCAGTGCCACCACCGTGCGTTCCGTCACCCATGCCAACGCCCTCACTGTC c.2220
M P W L S A T T V R S V T H A N A L T V p.740
. . . . . . g.19986
ATGGGCAAAGCCAGCACCCCAGGGGCTGCAGCCCAGATCCAGGAGGTCAAAGAGCAGCGG c.2280
M G K A S T P G A A A Q I Q E V K E Q R p.760
. . . | 18 . . . g.21575
ATCAGTGGACTCCTGGTCGCTGTGCTTGTGG | GCCTGTCCATCCTCATGGAGCCCATCCTG c.2340
I S G L L V A V L V G | L S I L M E P I L p.780
. . . . . . g.21635
TCCCGCATCCCCCTGGCTGTACTGTTTGGCATCTTCCTCTACATGGGGGTCACGTCGCTC c.2400
S R I P L A V L F G I F L Y M G V T S L p.800
. . . . . . g.21695
AGCGGCATCCAGCTCTTTGACCGCATCTTGCTTCTGTTCAAGCCACCCAAGTATCACCCA c.2460
S G I Q L F D R I L L L F K P P K Y H P p.820
. . | 19 . . . . g.21841
GATGTGCCCTACGTCAAGCGG | GTGAAGACCTGGCGCATGCACTTATTCACGGGCATCCAG c.2520
D V P Y V K R | V K T W R M H L F T G I Q p.840
. . . . . . g.21901
ATCATCTGCCTGGCAGTGCTGTGGGTGGTGAAGTCCACGCCGGCCTCCCTGGCCCTGCCC c.2580
I I C L A V L W V V K S T P A S L A L P p.860
. . . . . . g.21961
TTCGTCCTCATCCTCACTGTGCCGCTGCGGCGCGTCCTGCTGCCGCTCATCTTCAGGAAC c.2640
F V L I L T V P L R R V L L P L I F R N p.880
. | 20 . . . . . g.22641
GTGGAGCTTCAGTGT | CTGGATGCTGATGATGCCAAGGCAACCTTTGATGAGGAGGAAGGT c.2700
V E L Q C | L D A D D A K A T F D E E E G p.900
. . . g.22677
CGGGATGAATACGACGAAGTGGCCATGCCTGTGTGA c.2736
R D E Y D E V A M P V X p.911
. . . . . . g.22737
ggggcgggcccaggccctagaccctcccccaccattccacatccccaccttccaaggaaa c.*60
. . . . . . g.22797
agcagaagttcatgggcacctcatggactccaggatcctcctggagcagcagctgaggcc c.*120
. . . . . . g.22857
ccagggctgtgggtggggaaggaaggcgtgtccaggagaccttccacaaagggtagcctg c.*180
. . . . . . g.22917
gcttttctggctggggatggccgatggggcccacattagggggtttgttgcacagtccct c.*240
. . . . . . g.22977
cctgttgccacactttcactggggatcccgtgctggaagacttagatctgagccctccct c.*300
. . . . . . g.23037
cttcccagcacaggcaggggtagaagcaaaggcaggaggtgggtgagcgggtggggtgct c.*360
. . . . . . g.23097
tgctgtgtgaccttgggcaagtcccttgacctttccagcctatatttcctcttctgtaaa c.*420
. . . . . . g.23157
atgggtatattgatgataatacccacattacaggatggttactgaggaccaaagatacat c.*480
. . . . . . g.23217
gtaaaatagggctttgtaaactccacagggactgttctatagcagtcatcatttgtcttt c.*540
. . . . . . g.23277
gaacgtacccaaggtcacatagctgggatttgaactgagccgtgcagctgggatttgaac c.*600
. . . . . . g.23337
caggccttctgatttcaaggtccgagctctgtcctctgtcagtcatgcgtccactttccc c.*660
. . . . . . g.23397
ttcccctgtgactcctcccttccccactctgctcccagcccctaccttgagaccctcttc c.*720
. . . . . . g.23457
tctgggcccagagagaggcgtcctggtgaggacaaggtacaggcaaggatgatccaggga c.*780
. . . . . . g.23517
ttgggcctgggactcaggcctcctaagtgtttggttcctccctccaaacactcattagtt c.*840
. . . . . . g.23577
cactcattcattcattccacaaacatttactgagggccccggaatcagtggactccgagg c.*900
. . . . . . g.23637
ggactgagacaagccctgccctggggtgggggtggggggcaaggtacagttgattctaca c.*960
. . . . . . g.23697
tttggatagggagtgggggagggtgggaaggtaggggcgggagagtgagggggtttgtaa c.*1020
. . . . . . g.23757
tttattaattgcgtattttctaagagttttcaacatagtttggcttcacacacaacttca c.*1080
. . . . . . g.23817
ggcccctcatttgagagccattatcctcaactccatctaaactgaatcttggggagaacc c.*1140
. . . . . . g.23877
cagatctgaccaattggggtaggagacagcaggctctccaagaacatgggcaaatttatt c.*1200
. . . . . . g.23937
tttttataaaacaaaaagataaaaagagttgaaagacgtgaaagtggtgagagatggagg c.*1260
. . . . . . g.23997
aaacagaatcaggaagtggtagaaaagagaggaggtggctgggcgcagtggctcacgttt c.*1320
. . . . . . g.24057
gtaatcccagcactttgggaggccaagttgggcggatcatttgaggtcaggagtttgaga c.*1380
. . . . . . g.24117
ccagcctggccaacatggtgaaaccccgttactactaaaaatacaaaaattagctgggtg c.*1440
. . . . . . g.24177
tctcgtggcaggcacctgtaatcccagctacttagaaggctgaggcaagagaatcacctg c.*1500
. . . . . . g.24237
aacccaggaggtggaggttgcagtgagccaagattgcaccactgcactccagcctgggca c.*1560
. . . . . . g.24297
acagagcgagaccctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaacggaaggaaaca c.*1620
. . . . . . g.24357
tcagccttgggggccacagactcaacatgtgtgtgtggtggggttccagcccaacataga c.*1680
. . . . . . g.24417
gtaacattatttgtacctcccaggctagctcagtccatgggaggctctcctgtccctgaa c.*1740
. . . . . . g.24477
agctgacacccacctttcaccacttcgcccatgctacagttcagtttcctcgtctgtaaa c.*1800
. . . . . . g.24537
atggggatgataatggtacctaccttgcagtgttgttataaggattaaaggagacagtgc c.*1860
. . . . . . g.24597
aagaaaaggccttggttggtgaagagcccaacctcggaggggagctgctgggatcctcct c.*1920
. . . . . . g.24657
tatcttgactgggatgtccctgtctccccctccccttgctccttgaacatggccaaggaa c.*1980
. . . . . . g.24717
agtgaaaaacaaaaattattcactctgctagcacccttccccttgatgcctgggaatagg c.*2040
. . g.24745
ttttgccaataaacgtatctgtgttgga c.*2068
(downstream sequence)
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