(used for variant description)
(last modified February 19, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000352.3 in the ABCC8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008867.1, covering ABCC8 transcript NM_000352.3.
(upstream sequence)
g.5006
cggggc c.-121
. . . . . . g.5066
ccggggggcgggggcctgacggccgggccgggcggcggagctgcaagggacagaggcgcg c.-61
. . . . . . g.5126
gcaggcgcgcggagccagcggagccagctgagcccgagcccagcccgcgcccgcgccgcc c.-1
. . . . . . g.5186
ATGCCCCTGGCCTTCTGCGGCAGCGAGAACCACTCGGCCGCCTACCGGGTGGACCAGGGG c.60
M P L A F C G S E N H S A A Y R V D Q G p.20
. . . . . . g.5246
GTCCTCAACAACGGCTGCTTTGTGGACGCGCTCAACGTGGTGCCGCACGTCTTCCTACTC c.120
V L N N G C F V D A L N V V P H V F L L p.40
. . | 02 . . . g.6907
TTCATCACCTTCCCCATCCTCTTCATTG | GATGGGGAAGTCAGAGCTCCAAGGTGCACATC c.180
F I T F P I L F I G | W G S Q S S K V H I p.60
. . . . . . g.6967
CACCACAGCACATGGCTTCATTTCCCTGGGCACAACCTGCGGTGGATCCTGACCTTCATG c.240
H H S T W L H F P G H N L R W I L T F M p.80
. . . . . | 03 . g.11690
CTGCTCTTCGTCCTGGTGTGTGAGATTGCAGAGGGCATCCTGTCTGATGG | GGTGACCGAA c.300
L L F V L V C E I A E G I L S D G | V T E p.100
. . . . . . g.11750
TCCCACCATCTGCACCTGTACATGCCAGCCGGGATGGCGTTCATGGCTGCTGTCACCTCC c.360
S H H L H L Y M P A G M A F M A A V T S p.120
. . . . . | 04 . g.18306
GTGGTCTACTATCACAACATCGAGACTTCCAACTTCCCCAAGCTGCTAATTG | CCCTGCTG c.420
V V Y Y H N I E T S N F P K L L I A | L L p.140
. . . . . . g.18366
GTGTATTGGACCCTGGCCTTCATCACCAAGACCATCAAGTTTGTCAAGTTCTTGGACCAC c.480
V Y W T L A F I T K T I K F V K F L D H p.160
. . . . . . g.18426
GCCATCGGCTTCTCGCAGCTACGCTTCTGCCTCACAGGGCTGCTGGTGATCCTCTATGGG c.540
A I G F S Q L R F C L T G L L V I L Y G p.180
. . . | 05 . . g.20098
ATGCTGCTCCTCGTGGAGGTCAATGTCATCAGGGTGAGG | AGATACATCTTCTTCAAGACA c.600
M L L L V E V N V I R V R | R Y I F F K T p.200
. . . . . . g.20158
CCGAGGGAGGTGAAGCCTCCCGAGGACCTGCAAGACCTGGGGGTACGCTTCCTGCAGCCC c.660
P R E V K P P E D L Q D L G V R F L Q P p.220
. . . . . . g.20218
TTCGTGAATCTGCTGTCCAAAGGCACCTACTGGTGGATGAACGCCTTCATCAAGACTGCC c.720
F V N L L S K G T Y W W M N A F I K T A p.240
. . . . . . g.20278
CACAAGAAGCCCATCGACTTGCGAGCCATCGGGAAGCTGCCCATCGCCATGAGGGCCCTC c.780
H K K P I D L R A I G K L P I A M R A L p.260
. . . . | 06 . . g.21244
ACCAACTACCAACGGCTCTGCGAGGCCTTTGACGCCCAGGTG | CGGAAGGACATTCAGGGC c.840
T N Y Q R L C E A F D A Q V | R K D I Q G p.280
. . . . . . g.21304
ACTCAAGGTGCCCGGGCCATCTGGCAGGCACTCAGCCATGCCTTCGGGAGGCGCCTGGTC c.900
T Q G A R A I W Q A L S H A F G R R L V p.300
. . . . . . g.21364
CTCAGCAGCACTTTCCGCATCTTGGCCGACCTGCTGGGCTTCGCCGGGCCACTGTGCATC c.960
L S S T F R I L A D L L G F A G P L C I p.320
. . . . . | 07 . g.28628
TTTGGGATCGTGGACCACCTTGGGAAGGAGAACGACGTCTTCCAGCCCAAG | ACACAATTT c.1020
F G I V D H L G K E N D V F Q P K | T Q F p.340
. . . . . . g.28688
CTCGGGGTTTACTTTGTCTCATCCCAAGAGTTCCTTGCCAATGCCTACGTCTTAGCTGTG c.1080
L G V Y F V S S Q E F L A N A Y V L A V p.360
. . . . . . g.28748
CTTCTGTTCCTTGCCCTCCTACTGCAAAGGACATTTCTGCAAGCATCCTACTATGTGGCC c.1140
L L F L A L L L Q R T F L Q A S Y Y V A p.380
. . . | 08 . . . g.33255
ATTGAAACTGGAATTAACTTGAGAGGAGCAATACAG | ACCAAGATTTACAATAAAATTATG c.1200
I E T G I N L R G A I Q | T K I Y N K I M p.400
. . . . . . g.33315
CACCTGTCCACCTCCAACCTGTCCATGGGAGAAATGACTGCTGGACAGATCTGTAATCTG c.1260
H L S T S N L S M G E M T A G Q I C N L p.420
. . . . . . g.33375
GTTGCCATCGACACCAATCAGCTCATGTGGTTTTTCTTCTTGTGCCCAAACCTCTGGGCT c.1320
V A I D T N Q L M W F F F L C P N L W A p.440
. | 09 . . . . . g.38638
ATGCCAGTACAG | ATCATTGTGGGTGTGATTCTCCTCTACTACATACTCGGAGTCAGTGCC c.1380
M P V Q | I I V G V I L L Y Y I L G V S A p.460
. . . . . . g.38698
TTAATTGGAGCAGCTGTCATCATTCTACTGGCTCCTGTCCAGTACTTCGTGGCCACCAAG c.1440
L I G A A V I I L L A P V Q Y F V A T K p.480
. . | 10. . . . g.39053
CTGTCTCAGGCCCAGCGGAGCACACTG | GAGTATTCCAATGAGCGGCTGAAGCAGACCAAC c.1500
L S Q A Q R S T L | E Y S N E R L K Q T N p.500
. . . . . . g.39113
GAGATGCTCCGCGGCATCAAGCTGCTGAAGCTGTACGCCTGGGAGAACATCTTCCGCACG c.1560
E M L R G I K L L K L Y A W E N I F R T p.520
. . . . . . g.39173
CGGGTGGAGACGACCCGCAGGAAGGAGATGACCAGCCTCAGGGCCTTTGCCATCTATACC c.1620
R V E T T R R K E M T S L R A F A I Y T p.540
. | 11 . . . . | 12 . g.50952
TCCATCTCCA | TTTTCATGAACACGGCCATCCCCATTGCAGCTGTCCTCATA | ACTTTCGTG c.1680
S I S I | F M N T A I P I A A V L I | T F V p.560
. . . . . . g.51012
GGCCACGTCAGCTTCTTCAAAGAGGCCGACTTCTCGCCCTCCGTGGCCTTTGCCTCCCTC c.1740
G H V S F F K E A D F S P S V A F A S L p.580
. . . . . . g.51072
TCCCTCTTCCATATCTTGGTCACACCGCTGTTCCTGCTGTCCAGTGTGGTCCGATCTACC c.1800
S L F H I L V T P L F L L S S V V R S T p.600
. | 13. . . . . g.53275
GTCAAAGCTCTAGTGAG | CGTGCAAAAGCTAAGCGAGTTCCTGTCCAGTGCAGAGATCCGT c.1860
V K A L V S | V Q K L S E F L S S A E I R p.620
. . . . . . g.53335
GAGGAGCAGTGTGCCCCCCATGAGCCCACACCTCAGGGCCCAGCCAGCAAGTACCAGGCG c.1920
E E Q C A P H E P T P Q G P A S K Y Q A p.640
| 14 . . . . . . g.53554
GTG | CCCCTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTGTCGGGGCCTCACC c.1980
V | P L R V V N R K R P A R E D C R G L T p.660
. . . . . . g.53614
GGCCCACTGCAGAGCCTGGTCCCCAGTGCAGATGGCGATGCTGACAACTGCTGTGTCCAG c.2040
G P L Q S L V P S A D G D A D N C C V Q p.680
| 15 . . . . . . g.54020
| ATCATGGGAGGCTACTTCACGTGGACCCCAGATGGAATCCCCACACTGTCCAACATCACC c.2100
| I M G G Y F T W T P D G I P T L S N I T p.700
. | 16 . . . . . g.54792
ATTCGTATCCCCCGAG | GCCAGCTGACTATGATCGTGGGGCAGGTGGGCTGCGGCAAGTCC c.2160
I R I P R G | Q L T M I V G Q V G C G K S p.720
. . . . . . g.54852
TCGCTCCTTCTAGCCGCACTGGGGGAGATGCAGAAGGTCTCAGGGGCTGTCTTCTGGAGC c.2220
S L L L A A L G E M Q K V S G A V F W S p.740
| 17 . . . | 18 . . . g.66588
AG | CCTTCCTGACAGCGAGATAGGAGAGGACCCCAG | CCCAGAGCGGGAGACAGCGACCGAC c.2280
S | L P D S E I G E D P S | P E R E T A T D p.760
. | 19 . . . . . g.67341
TTGGATATCAG | GAAGAGAGGCCCCGTGGCCTATGCTTCGCAGAAACCATGGCTGCTAAAT c.2340
L D I R | K R G P V A Y A S Q K P W L L N p.780
. . . . . | 20 . g.68434
GCCACTGTGGAGGAGAACATCATCTTTGAGAGTCCCTTCAACAAACAACG | GTACAAGATG c.2400
A T V E E N I I F E S P F N K Q R | Y K M p.800
. . . . . . g.68494
GTCATTGAAGCCTGCTCTCTGCAGCCAGACATCGACATCCTGCCCCATGGAGACCAGACC c.2460
V I E A C S L Q P D I D I L P H G D Q T p.820
. | 21 . . . . . g.69201
CAGATTGGGGAACGG | GGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCC c.2520
Q I G E R | G I N L S G G Q R Q R I S V A p.840
. . . | 22 . . . g.71273
CGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTG | GATGACCCCTTCTCAGCTCTGGAT c.2580
R A L Y Q H A N V V F L | D D P F S A L D p.860
. . . . . . g.71333
ATCCATCTGAGTGACCACTTAATGCAGGCCGGCATCCTTGAGCTGCTCCGGGACGACAAG c.2640
I H L S D H L M Q A G I L E L L R D D K p.880
. . . . . | 23 . g.73391
AGGACAGTGGTCTTAGTGACCCACAAGCTACAGTACCTGCCCCATGCAGACTGG | ATCATT c.2700
R T V V L V T H K L Q Y L P H A D W | I I p.900
. . . . . . g.73451
GCCATGAAGGATGGCACCATCCAGAGGGAGGGTACCCTCAAGGACTTCCAGAGGTCTGAA c.2760
A M K D G T I Q R E G T L K D F Q R S E p.920
. . . . . . g.73511
TGCCAGCTCTTTGAGCACTGGAAGACCCTCATGAACCGACAGGACCAAGAGCTGGAGAAG c.2820
C Q L F E H W K T L M N R Q D Q E L E K p.940
| 24 . . . . . . g.74509
| GAGACTGTCACAGAGAGAAAAGCCACAGAGCCACCCCAGGGCCTATCTCGTGCCATGTCC c.2880
| E T V T E R K A T E P P Q G L S R A M S p.960
. . . . | 25 . . g.74793
TCGAGGGATGGCCTTCTGCAGGATGAGGAAGAGGAGGAAG | AGGAGGCAGCTGAGAGCGAG c.2940
S R D G L L Q D E E E E E E | E A A E S E p.980
. . . . . . g.74853
GAGGATGACAACCTGTCGTCCATGCTGCACCAGCGTGCTGAGATCCCATGGCGAGCCTGC c.3000
E D D N L S S M L H Q R A E I P W R A C p.1000
. . . . . . g.74913
GCCAAGTACCTGTCCTCCGCCGGCATCCTGCTCCTGTCGTTGCTGGTCTTCTCACAGCTG c.3060
A K Y L S S A G I L L L S L L V F S Q L p.1020
. . . . . . g.74973
CTCAAGCACATGGTCCTGGTGGCCATCGACTACTGGCTGGCCAAGTGGACCGACAGCGCC c.3120
L K H M V L V A I D Y W L A K W T D S A p.1040
. . . . | 26 . . g.75132
CTGACCCTGACCCCTGCAGCCAGGAACTGCTCCCTCAGCCAG | GAGTGCACCCTCGACCAG c.3180
L T L T P A A R N C S L S Q | E C T L D Q p.1060
. . . . . . g.75192
ACTGTCTATGCCATGGTGTTCACGGTGCTCTGCAGCCTGGGCATTGTGCTGTGCCTCGTC c.3240
T V Y A M V F T V L C S L G I V L C L V p.1080
. . . . . . g.75252
ACGTCTGTCACTGTGGAGTGGACAGGGCTGAAGGTGGCCAAGAGACTGCACCGCAGCCTG c.3300
T S V T V E W T G L K V A K R L H R S L p.1100
. . | 27 . . . g.76370
CTAAACCGGATCATCCTAGCCCCCATGAG | GTTTTTTGAGACCACGCCCCTTGGGAGCATC c.3360
L N R I I L A P M R | F F E T T P L G S I p.1120
. . . | 28 . . g.77254
CTGAACAGATTTTCATCTGACTGTAACACCATCGACCAG | CACATCCCATCCACGCTGGAG c.3420
L N R F S S D C N T I D Q | H I P S T L E p.1140
. . . . . . g.77314
TGCCTGAGCCGCTCCACCCTGCTCTGTGTCTCAGCCCTGGCCGTCATCTCCTATGTCACA c.3480
C L S R S T L L C V S A L A V I S Y V T p.1160
. . . . . . g.77374
CCTGTGTTCCTCGTGGCCCTCTTGCCCCTGGCCATCGTGTGCTACTTCATCCAGAAGTAC c.3540
P V F L V A L L P L A I V C Y F I Q K Y p.1180
. | 29. . . . . g.79192
TTCCGGGTGGCGTCCAG | GGACCTGCAGCAGCTGGATGACACCACCCAGCTTCCACTTCTC c.3600
F R V A S R | D L Q Q L D D T T Q L P L L p.1200
. . . . . | 30 . g.83471
TCACACTTTGCCGAAACCGTAGAAGGACTCACCACCATCCGGGCCTTCAG | GTATGAGGCC c.3660
S H F A E T V E G L T T I R A F R | Y E A p.1220
. . . . . . g.83531
CGGTTCCAGCAGAAGCTTCTCGAATACACAGACTCCAACAACATTGCTTCCCTCTTCCTC c.3720
R F Q Q K L L E Y T D S N N I A S L F L p.1240
. . . | 31 . . . g.84132
ACAGCTGCCAACAGATGGCTGGAAGTCCGAATG | GAGTACATCGGTGCATGTGTGGTGCTC c.3780
T A A N R W L E V R M | E Y I G A C V V L p.1260
. . . . . . g.84192
ATCGCAGCGGTGACCTCCATCTCCAACTCCCTGCACAGGGAGCTCTCTGCTGGCCTGGTG c.3840
I A A V T S I S N S L H R E L S A G L V p.1280
. . | 32. . . . g.84622
GGCCTGGGCCTTACCTACGCCCTAATG | GTCTCCAACTACCTCAACTGGATGGTGAGGAAC c.3900
G L G L T Y A L M | V S N Y L N W M V R N p.1300
. . . . . . g.84682
CTGGCAGACATGGAGCTCCAGCTGGGGGCTGTGAAGCGCATCCATGGGCTCCTGAAAACC c.3960
L A D M E L Q L G A V K R I H G L L K T p.1320
. . | 33 . . . g.84888
GAGGCAGAGAGCTACGAGGGGCTCCTGG | CACCATCGCTGATCCCAAAGAACTGGCCAGAC c.4020
E A E S Y E G L L A | P S L I P K N W P D p.1340
. . . . . . g.84948
CAAGGGAAGATCCAGATCCAGAACCTGAGCGTGCGCTACGACAGCTCCCTGAAGCCGGTG c.4080
Q G K I Q I Q N L S V R Y D S S L K P V p.1360
. . . | 34 . . g.85993
CTGAAGCACGTCAATGCCCTCATCGCCCCTGGACAGAAG | ATCGGGATCTGCGGCCGCACC c.4140
L K H V N A L I A P G Q K | I G I C G R T p.1380
. . . . . | 35 g.86186
GGCAGTGGGAAGTCCTCCTTCTCTCTTGCCTTCTTCCGCATGGTGGACACGTTCGAAG | GG c.4200
G S G K S S F S L A F F R M V D T F E G | p.1400
. . . . . . g.86246
CACATCATCATTGATGGCATTGACATCGCCAAACTGCCGCTGCACACCCTGCGCTCACGC c.4260
H I I I D G I D I A K L P L H T L R S R p.1420
. . . . | 36. . g.86640
CTCTCCATCATCCTGCAGGACCCCGTCCTCTTCAGCGGCACCATCCG | ATTTAACCTGGAC c.4320
L S I I L Q D P V L F S G T I R | F N L D p.1440
. . . . . . g.86700
CCTGAGAGGAAGTGCTCAGATAGCACACTGTGGGAGGCCCTGGAAATCGCCCAGCTGAAG c.4380
P E R K C S D S T L W E A L E I A Q L K p.1460
. . . | 37 . . . g.87532
CTGGTGGTGAAGGCACTGCCAGGAGGCCTCG | ATGCCATCATCACAGAAGGCGGGGAGAAT c.4440
L V V K A L P G G L D | A I I T E G G E N p.1480
. . . . . . g.87592
TTCAGCCAGGGACAGAGGCAGCTGTTCTGCCTGGCCCGGGCCTTCGTGAGGAAGACCAGC c.4500
F S Q G Q R Q L F C L A R A F V R K T S p.1500
. . . . | 38 . . g.88158
ATCTTCATCATGGACGAGGCCACGGCTTCCATTGACATGGCCACG | GAAAACATCCTCCAA c.4560
I F I M D E A T A S I D M A T | E N I L Q p.1520
. . . . | 39 . g.88786
AAGGTGGTGATGACAGCCTTCGCAGACCGCACTGTGGTCACCATCGCG | CATCGAGTGCAC c.4620
K V V M T A F A D R T V V T I A | H R V H p.1540
. . . . . . g.88846
ACCATCCTGAGTGCAGACCTGGTGATCGTCCTGAAGCGGGGTGCCATCCTTGAGTTCGAT c.4680
T I L S A D L V I V L K R G A I L E F D p.1560
. . . . . . g.88906
AAGCCAGAGAAGCTGCTCAGCCGGAAGGACAGCGTCTTCGCCTCCTTCGTCCGTGCAGAC c.4740
K P E K L L S R K D S V F A S F V R A D p.1580
g.88912
AAGTGA c.4746
K X p.1581
. . . . . . g.88972
cctgccagagcccaagtgccatcccacattcggaccctgcccatacccctgcctgggttt c.*60
. . . . g.89018
tctaactgtaaatcacttgtaaataaatagatttgattatttccta c.*106
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center