(used for variant description)
(last modified September 18, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_025130.3 in the HKDC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering HKDC1 transcript NM_025130.3.
(upstream sequence)
. g.5013
atttagtccgcaa c.-121
. . . . . . g.5073
cacctcgctccccaggaggtctgccagcctggactggaagcgtgcaacactccagagtcg c.-61
. . . . . . g.5133
taggagtgaacactgcacaggaatctctgcccatctcaggagaaaccaaacttggggaaa c.-1
. . . . . . g.5193
ATGTTTGCGGTCCACTTGATGGCATTTTACTTCAGCAAGCTGAAGGAGGACCAGATCAAG c.60
M F A V H L M A F Y F S K L K E D Q I K p.20
| 02 . . . . . . g.11961
AAG | GTGGACAGGTTCCTGTATCACATGCGGCTCTCCGATGACACCCTTTTGGACATCATG c.120
K | V D R F L Y H M R L S D D T L L D I M p.40
. . . . . . g.12021
AGGCGGTTCCGGGCTGAGATGGAGAAGGGCCTGGCAAAGGACACCAACCCCACGGCTGCA c.180
R R F R A E M E K G L A K D T N P T A A p.60
. . . . | 03 . . g.17475
GTGAAGATGTTGCCCACCTTCGTCAGGGCCATTCCCGATGGTTCCG | AAAATGGGGAGTTC c.240
V K M L P T F V R A I P D G S E | N G E F p.80
. . . . . . g.17535
CTTTCCCTGGATCTCGGAGGGTCCAAGTTCCGAGTGCTGAAGGTGCAAGTCGCTGAAGAG c.300
L S L D L G G S K F R V L K V Q V A E E p.100
. . . . . . g.17595
GGGAAGCGACACGTGCAGATGGAGAGTCAGTTCTACCCAACGCCCAATGAAATCATCCGC c.360
G K R H V Q M E S Q F Y P T P N E I I R p.120
. | 04 . . . . . g.17756
GGGAACGGCACAGAG | CTGTTTGAATATGTAGCTGACTGTCTGGCAGATTTCATGAAGACC c.420
G N G T E | L F E Y V A D C L A D F M K T p.140
. . . . . . g.17816
AAAGATTTAAAGCATAAGAAATTGCCCCTTGGCCTAACTTTTTCTTTCCCCTGTCGACAG c.480
K D L K H K K L P L G L T F S F P C R Q p.160
. | 05 . . . . . g.23784
ACTAAACTGGAAGAG | GGTGTCCTACTTTCGTGGACAAAAAAGTTTAAGGCACGAGGAGTT c.540
T K L E E | G V L L S W T K K F K A R G V p.180
. . . . . | 06 . g.25358
CAGGACACGGATGTGGTGAGCCGTCTGACCAAAGCCATGAGAAGACACAAG | GACATGGAC c.600
Q D T D V V S R L T K A M R R H K | D M D p.200
. . . . . . g.25418
GTGGACATCCTGGCCCTGGTCAATGACACCGTGGGGACCATGATGACCTGTGCCTATGAC c.660
V D I L A L V N D T V G T M M T C A Y D p.220
. . . | 07 . . . g.27908
GACCCCTACTGCGAAGTTGGTGTCATCATCG | GAACTGGCACCAATGCGTGTTACATGGAG c.720
D P Y C E V G V I I G | T G T N A C Y M E p.240
. . . . . . g.27968
GACATGAGCAACATTGACCTGGTGGAGGGCGACGAGGGCAGGATGTGCATCAACACAGAG c.780
D M S N I D L V E G D E G R M C I N T E p.260
. . . . . . g.28028
TGGGGGGCCTTCGGGGACGACGGGGCCCTGGAGGACATTCGCACTGAGTTCGACAGGGAG c.840
W G A F G D D G A L E D I R T E F D R E p.280
. . . | 08 . . . g.30801
CTGGACCTCGGCTCTCTCAACCCAGGAAAGCAACT | GTTCGAGAAGATGATCAGTGGCCTG c.900
L D L G S L N P G K Q L | F E K M I S G L p.300
. . . . . . g.30861
TACCTGGGGGAGCTTGTCAGGCTTATCTTGCTGAAGATGGCCAAGGCTGGCCTCCTGTTT c.960
Y L G E L V R L I L L K M A K A G L L F p.320
. . . . . . g.30921
GGTGGTGAGAAATCTTCTGCTCTCCACACTAAGGGCAAGATCGAAACACGGCACGTGGCT c.1020
G G E K S S A L H T K G K I E T R H V A p.340
. | 09 . . . . . g.32106
GCCATGGAGAA | GTATAAAGAAGGCCTTGCTAATACAAGAGAGATCCTGGTGGACCTGGGT c.1080
A M E K | Y K E G L A N T R E I L V D L G p.360
. . . . . . g.32166
CTGGAACCGTCTGAGGCTGACTGCATTGCCGTCCAGCATGTCTGTACCATCGTCTCCTTC c.1140
L E P S E A D C I A V Q H V C T I V S F p.380
. . . . . . g.32226
CGCTCGGCCAATCTCTGTGCAGCAGCTCTGGCGGCCATCCTGACACGCCTCCGGGAGAAC c.1200
R S A N L C A A A L A A I L T R L R E N p.400
. . . . . . g.32286
AAGAAGGTGGAACGGCTCCGGACCACAGTGGGCATGGACGGCACCCTCTACAAGATACAC c.1260
K K V E R L R T T V G M D G T L Y K I H p.420
| 10 . . . . . . g.33176
CCTCA | GTACCCAAAACGCCTGCACAAGGTGGTGAGGAAACTGGTCCCAAGCTGTGATGTC c.1320
P Q | Y P K R L H K V V R K L V P S C D V p.440
. . . . . . g.33236
CGCTTCCTCCTGTCAGAGAGTGGCAGCACCAAGGGGGCCGCCATGGTGACCGCGGTGGCC c.1380
R F L L S E S G S T K G A A M V T A V A p.460
. . . . . . g.33296
TCCCGCGTGCAGGCCCAGCGGAAGCAGATCGACAGGGTGCTGGCTTTGTTCCAGCTGACC c.1440
S R V Q A Q R K Q I D R V L A L F Q L T p.480
. . . . . . g.33356
CGAGAGCAGCTCGTGGACGTGCAGGCCAAGATGCGGGCTGAGCTGGAGTATGGGCTGAAG c.1500
R E Q L V D V Q A K M R A E L E Y G L K p.500
. . . . . . g.33416
AAGAAGAGCCACGGGCTGGCCACGGTCAGGATGCTGCCCACCTACGTCTGCGGGCTGCCG c.1560
K K S H G L A T V R M L P T Y V C G L P p.520
. | 11 . . . . . g.35037
GACGGCACAG | AGAAAGGAAAGTTTCTCGCCCTGGATCTTGGGGGAACCAACTTCCGGGTC c.1620
D G T E | K G K F L A L D L G G T N F R V p.540
. . . . . . g.35097
CTCCTGGTGAAGATCAGAAGTGGACGGAGGTCAGTGCGAATGTACAACAAGATCTTCGCC c.1680
L L V K I R S G R R S V R M Y N K I F A p.560
. . . | 12 . . . g.35254
ATCCCCCTGGAGATCATGCAGGGCACTGGTGAGGAG | CTCTTTGATCACATTGTGCAGTGC c.1740
I P L E I M Q G T G E E | L F D H I V Q C p.580
. . . . . . g.35314
ATCGCCGACTTCCTGGACTACATGGGCCTCAAGGGAGCCTCCCTACCTTTGGGCTTCACA c.1800
I A D F L D Y M G L K G A S L P L G F T p.600
. . . | 13 . . . g.41757
TTCTCATTTCCCTGCAGGCAGATGAGCATTGACAAG | GGAACACTCATAGGGTGGACCAAA c.1860
F S F P C R Q M S I D K | G T L I G W T K p.620
. . . . . . g.41817
GGTTTCAAGGCCACTGACTGTGAAGGGGAGGACGTGGTGGACATGCTCAGGGAAGCCATC c.1920
G F K A T D C E G E D V V D M L R E A I p.640
. | 14 . . . . . g.42072
AAGAGGAGAAAC | GAGTTTGACCTGGACATTGTTGCAGTCGTGAATGATACAGTGGGGACC c.1980
K R R N | E F D L D I V A V V N D T V G T p.660
. . . . . | 15 . g.43481
ATGATGACCTGTGGCTATGAAGATCCTAATTGTGAGATTGGCCTGATTGCAG | GAACAGGC c.2040
M M T C G Y E D P N C E I G L I A G | T G p.680
. . . . . . g.43541
AGCAACATGTGCTACATGGAGGACATGAGGAACATCGAGATGGTGGAGGGGGGTGAAGGG c.2100
S N M C Y M E D M R N I E M V E G G E G p.700
. . . . . . g.43601
AAGATGTGCATCAATACAGAGTGGGGAGGATTTGGAGACAATGGCTGCATAGATGACATC c.2160
K M C I N T E W G G F G D N G C I D D I p.720
. . . . . | 16 . g.45840
TGGACCCGATACGACACGGAGGTGGATGAGGGGTCCTTGAATCCTGGCAAGCAGAG | ATAC c.2220
W T R Y D T E V D E G S L N P G K Q R | Y p.740
. . . . . . g.45900
GAGAAAATGACCAGTGGGATGTACTTGGGGGAGATTGTGCGGCAGATCCTGATCGACCTG c.2280
E K M T S G M Y L G E I V R Q I L I D L p.760
. . . . . . g.45960
ACCAAGCAGGGTCTCCTCTTCCGAGGGCAGATTTCAGAGCGTCTCCGGACCAGGGGCATC c.2340
T K Q G L L F R G Q I S E R L R T R G I p.780
. . . | 17 . . . g.50310
TTCGAAACCAAGTTCCTGTCCCAGATCGAAAG | CGATCGGCTGGCCCTTCTCCAGGTCAGG c.2400
F E T K F L S Q I E S | D R L A L L Q V R p.800
. . . . . . g.50370
AGGATTCTGCAGCAGCTGGGCCTGGACAGCACGTGTGAGGACAGCATCGTGGTGAAGGAG c.2460
R I L Q Q L G L D S T C E D S I V V K E p.820
. . . . . . g.50430
GTGTGCGGAGCCGTGTCCCGGCGGGCGGCCCAGCTCTGCGGTGCTGGCCTGGCCGCTATA c.2520
V C G A V S R R A A Q L C G A G L A A I p.840
. . . . . . g.50490
GTGGAAAAAAGGAGAGAAGACCAGGGGCTAGAGCACCTGAGGATCACTGTGGGTGTGGAC c.2580
V E K R R E D Q G L E H L R I T V G V D p.860
. . | 18 . . . . g.51341
GGCACCCTGTACAAGCTGCACCCTCA | CTTTTCTAGAATATTGCAGGAAACTGTGAAGGAA c.2640
G T L Y K L H P H | F S R I L Q E T V K E p.880
. . . . . . g.51401
CTAGCCCCTCGATGTGATGTGACATTCATGCTGTCAGAAGATGGCAGTGGAAAAGGGGCA c.2700
L A P R C D V T F M L S E D G S G K G A p.900
. . . . . g.51455
GCACTGATCACTGCTGTGGCCAAGAGGTTACAGCAGGCACAGAAGGAGAACTAG c.2754
A L I T A V A K R L Q Q A Q K E N X p.917
. . . . . . g.51515
gaacccctgggattggacctgatgcatcttggatactgaacagcttttcctctggcagat c.*60
. . . . . . g.51575
cagttggtcagagaccaatgggcaccctcctggctgacctcaccttctggatggccgaaa c.*120
. . . . . . g.51635
gagaaccccaggttctcgggtactcttagtatcttgtactggatttgcagtgacattaca c.*180
. . . . . . g.51695
tgacatctctatttggtatatttgggccaaaatgggccaacttatgaaatcaaagtgtct c.*240
. . . . . . g.51755
gtcctgagagatcccctttcaacacattgttcaggtgaggcttgagctgtcaattctcta c.*300
. . . . . . g.51815
tggctttcagtcttgtggctgcgggacttggaaatatatagaatctgcccatgtggctgg c.*360
. . . . . . g.51875
caggctgtttccccattgggatgcttaagccatctcttataggggattggaccctgtact c.*420
. . . . . . g.51935
tgtggatgaacattggagagcaagaggaactcacgttatgaactagggggatctcatcta c.*480
. . . . . . g.51995
acttgtccttaacttgccatgttgacttcaaacctattaagagaacaaagactttgaagt c.*540
. . . . . . g.52055
atccagccccagggtgcagagaggttgattgccagggagcactgcaggaatcattgcatg c.*600
. . . . . . g.52115
cttaaagcgagttatgtcagcaccctgtaggattttgttccttattaagtgtgtgccatg c.*660
. . . . . . g.52175
tggtggggtgctgtctggggcatctgtttttcattttgcctgtggtttgtgttgcaggtg c.*720
. . . . . . g.52235
ttgatagttgttttaaggattgttaggtataggaaatccagtaaattaataaaaaaattt c.*780
. . g.52257
tgattttccaataaactttgca c.*802
(downstream sequence)
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