(used for variant description)
(last modified February 21, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000162.3 in the GCK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008847.1, covering GCK transcript NM_000162.3.
(upstream sequence)
. . . . . g.5050
gagcaggaaatgccgagcggcgcctgagccccagggaagcaggctaggat c.-421
. . . . . . g.5110
gtgagagacacagtcacctgcagcctaattactcaaaagctgtccccaggtcacagaagg c.-361
. . . . . . g.5170
gagaggacatttcccactgaatctgtctgaaggacactaagccccacagctcaacacaac c.-301
. . . . . . g.5230
caggagagaaagcgctgaggacgccacccaagcgcccagcaatggccctgcctggagaac c.-241
. . . . . . g.5290
atccaggctcagtgaggaagggtccagaagggaatgcttgccgactcgttggagaacaat c.-181
. . . . . . g.5350
gaaaaggaggaaactgtgactgaacctcaaaccccaaaccagcccgaggagaaccacatt c.-121
. . . . . . g.5410
ctcccagggacccagggcgggccgtgacccctgcggcggagaagccttggatatttccac c.-61
. . . . . . g.5470
ttcagaagcctactggggaaggctgaggggtcccagctccccacgctggctgctgtgcag c.-1
. . . . | 02 . . g.40975
ATGCTGGACGACAGAGCCAGGATGGAGGCCGCCAAGAAGGAGAAG | GTAGAGCAGATCCTG c.60
M L D D R A R M E A A K K E K | V E Q I L p.20
. . . . . . g.41035
GCAGAGTTCCAGCTGCAGGAGGAGGACCTGAAGAAGGTGATGAGACGGATGCAGAAGGAG c.120
A E F Q L Q E E D L K K V M R R M Q K E p.40
. . . . . . g.41095
ATGGACCGCGGCCTGAGGCTGGAGACCCATGAAGAGGCCAGTGTGAAGATGCTGCCCACC c.180
M D R G L R L E T H E E A S V K M L P T p.60
. . | 03 . . . g.42030
TACGTGCGCTCCACCCCAGAAGGCTCAG | AAGTCGGGGACTTCCTCTCCCTGGACCTGGGT c.240
Y V R S T P E G S E | V G D F L S L D L G p.80
. . . . . . g.42090
GGCACTAACTTCAGGGTGATGCTGGTGAAGGTGGGAGAAGGTGAGGAGGGGCAGTGGAGC c.300
G T N F R V M L V K V G E G E E G Q W S p.100
. . . . . . g.42150
GTGAAGACCAAACACCAGATGTACTCCATCCCCGAGGACGCCATGACCGGCACTGCTGAG c.360
V K T K H Q M Y S I P E D A M T G T A E p.120
| 04 . . . . . . g.43405
ATG | CTCTTCGACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCATCAGATGAAA c.420
M | L F D Y I S E C I S D F L D K H Q M K p.140
. . . . . . g.43465
CACAAGAAGCTGCCCCTGGGCTTCACCTTCTCCTTTCCTGTGAGGCACGAAGACATCGAT c.480
H K K L P L G F T F S F P V R H E D I D p.160
| 05 . . . . . . g.44416
AAG | GGCATCCTTCTCAACTGGACCAAGGGCTTCAAGGCCTCAGGAGCAGAAGGGAACAAT c.540
K | G I L L N W T K G F K A S G A E G N N p.180
. . . | 06 . . g.44585
GTCGTGGGGCTTCTGCGAGACGCTATCAAACGGAGAGGG | GACTTTGAAATGGATGTGGTG c.600
V V G L L R D A I K R R G | D F E M D V V p.200
. . . . . . g.44645
GCAATGGTGAATGACACGGTGGCCACGATGATCTCCTGCTACTACGAAGACCATCAGTGC c.660
A M V N D T V A T M I S C Y Y E D H Q C p.220
. | 07 . . . . g.46631
GAGGTCGGCATGATCGTGG | GCACGGGCTGCAATGCCTGCTACATGGAGGAGATGCAGAAT c.720
E V G M I V G | T G C N A C Y M E E M Q N p.240
. . . . . . g.46691
GTGGAGCTGGTGGAGGGGGACGAGGGCCGCATGTGCGTCAATACCGAGTGGGGCGCCTTC c.780
V E L V E G D E G R M C V N T E W G A F p.260
. . . . . . g.46751
GGGGACTCCGGCGAGCTGGACGAGTTCCTGCTGGAGTATGACCGCCTGGTGGACGAGAGC c.840
G D S G E L D E F L L E Y D R L V D E S p.280
. . | 08 . . . . g.47842
TCTGCAAACCCCGGTCAGCAGCT | GTATGAGAAGCTCATAGGTGGCAAGTACATGGGCGAG c.900
S A N P G Q Q L | Y E K L I G G K Y M G E p.300
. . . . . . g.47902
CTGGTGCGGCTTGTGCTGCTCAGGCTCGTGGACGAAAACCTGCTCTTCCACGGGGAGGCC c.960
L V R L V L L R L V D E N L L F H G E A p.320
. . . . . | 09 g.48694
TCCGAGCAGCTGCGCACACGCGGAGCCTTCGAGACGCGCTTCGTGTCGCAGGTGGAGAG | C c.1020
S E Q L R T R G A F E T R F V S Q V E S | p.340
. . . . . . g.48754
GACACGGGCGACCGCAAGCAGATCTACAACATCCTGAGCACGCTGGGGCTGCGACCCTCG c.1080
D T G D R K Q I Y N I L S T L G L R P S p.360
. . . . . . g.48814
ACCACCGACTGCGACATCGTGCGCCGCGCCTGCGAGAGCGTGTCTACGCGCGCTGCGCAC c.1140
T T D C D I V R R A C E S V S T R A A H p.380
. . . . . . g.48874
ATGTGCTCGGCGGGGCTGGCGGGCGTCATCAACCGCATGCGCGAGAGCCGCAGCGAGGAC c.1200
M C S A G L A G V I N R M R E S R S E D p.400
. . . . . | 10 . g.49150
GTAATGCGCATCACTGTGGGCGTGGATGGCTCCGTGTACAAGCTGCACCCCAG | CTTCAAG c.1260
V M R I T V G V D G S V Y K L H P S | F K p.420
. . . . . . g.49210
GAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAG c.1320
E R F H A S V R R L T P S C E I T F I E p.440
. . . . . . g.49270
TCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGGTGGCCTGTAAGAAGGCC c.1380
S E E G S G R G A A L V S A V A C K K A p.460
. g.49288
TGTATGCTGGGCCAGTGA c.1398
C M L G Q X p.465
. . . . . . g.49348
gagcagtggccgcaagcgcagggaggatgccacagccccacagcacccaggctccatggg c.*60
. . . . . . g.49408
gaagtgctccccacacgtgctcgcagcctggcggggcaggaggcctggccttgtcaggac c.*120
. . . . . . g.49468
ccaggccgcctgccataccgctggggaacagagcgggcctcttccctcagtttttcggtg c.*180
. . . . . . g.49528
ggacagccccagggccctaacgggggtgcggcaggagcaggaacagagactctggaagcc c.*240
. . . . . . g.49588
ccccacctttctcgctggaatcaatttcccagaagggagttgctcactcaggactttgat c.*300
. . . . . . g.49648
gcatttccacactgtcagagctgttggcctcgcctgggcccaggctctgggaaggggtgc c.*360
. . . . . . g.49708
cctctggatcctgctgtggcctcacttccctgggaactcatcctgtgtggggaggcagct c.*420
. . . . . . g.49768
ccaacagcttgaccagacctagacctgggccaaaagggcagccaggggctgctcatcacc c.*480
. . . . . . g.49828
cagtcctggccattttcttgcctgaggctcaagaggcccagggagcaatgggagggggct c.*540
. . . . . . g.49888
ccatggaggaggtgtcccaagctttgaatacccccagagaccttttctctcccataccat c.*600
. . . . . . g.49948
cactgagtggcttgtgattctgggatggaccctcgcagcaggtgcaagagacagagcccc c.*660
. . . . . . g.50008
caagcctctgccccaaggggcccacaaaggggagaagggccagccctacatcttcagctc c.*720
. . . . . . g.50068
ccatagcgctggctcaggaagaaaccccaagcagcattcagcacaccccaagggacaacc c.*780
. . . . . . g.50128
ccatcatatgacatgccaccctctccatgcccaacctaagattgtgtgggttttttaatt c.*840
. . g.50153
aaaaatgttaaaagttttaaacatg c.*865
(downstream sequence)
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