(used for variant description)
(last modified December 18, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000414.3 in the HSD17B4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008182.1, covering HSD17B4 transcript NM_000414.3.
(upstream sequence)
. g.5003
gctcatcttccta c.-121
. . . . . . g.5063
ccagaaatcggcaagtcactgaccctcgtcccgcccccgccattccccgcctcctcctgt c.-61
. . . . . . g.5123
cccgcagtcggcgtccagcggctctgcttgttcgtgtgtgtgtcgttgcaggccttattc c.-1
. . . . . | 02 g.8864
ATGGGCTCACCGCTGAGGTTCGACGGGCGGGTGGTACTGGTCACCGGCGCGGGGGCAG | GA c.60
M G S P L R F D G R V V L V T G A G A G | p.20
. . . . . | 03 . g.26463
TTGGGCCGAGCCTATGCCCTGGCTTTTGCAGAAAGAGGAGCGTTAGTTGTTG | TGAATGAT c.120
L G R A Y A L A F A E R G A L V V V | N D p.40
. . . . . . g.26523
TTGGGAGGGGACTTCAAAGGAGTTGGTAAAGGCTCCTTAGCTGCTGATAAGGTTGTTGAA c.180
L G G D F K G V G K G S L A A D K V V E p.60
. . . . | 04 . . g.26968
GAAATAAGAAGGAGAGGTGGAAAAGCAGTGGCCAACTATG | ATTCAGTGGAAGAAGGAGAG c.240
E I R R R G G K A V A N Y D | S V E E G E p.80
. . . . | 05 . . g.28273
AAGGTTGTGAAGACAGCCCTGGATGCTTTTGGAAGAATAG | ATGTTGTGGTCAACAATGCT c.300
K V V K T A L D A F G R I D | V V V N N A p.100
| 06 . . . . | 07 . g.29975
GG | AATTCTGAGGGATCGTTCCTTTGCTAGGATAAGTGATGAAGACTGGG | ATATAATCCAC c.360
G | I L R D R S F A R I S D E D W D | I I H p.120
. . . . . . g.30035
AGAGTTCATTTGCGGGGTTCATTCCAAGTGACACGGGCAGCATGGGAACACATGAAGAAA c.420
R V H L R G S F Q V T R A A W E H M K K p.140
. | 08 . . . . . g.31427
CAGAAGTATGGAAG | GATTATTATGACTTCATCAGCTTCAGGAATATATGGCAACTTTGGC c.480
Q K Y G R | I I M T S S A S G I Y G N F G p.160
. . . . . . g.31487
CAGGCCAATTATAGTGCTGCAAAGTTGGGTCTTCTGGGCCTTGCAAATTCTCTTGCAATT c.540
Q A N Y S A A K L G L L G L A N S L A I p.180
. . . . . . g.31547
GAAGGCAGGAAAAGCAACATTCATTGTAACACCATTGCTCCTAATGCGGGATCACGGATG c.600
E G R K S N I H C N T I A P N A G S R M p.200
. . | 09 . . . . g.41777
ACTCAGACAGTTATGCCTGAAG | ATCTTGTGGAAGCCCTGAAGCCAGAGTATGTGGCACCT c.660
T Q T V M P E D | L V E A L K P E Y V A P p.220
. . . . . | 10 . g.44653
CTTGTCCTTTGGCTTTGTCACGAGAGTTGTGAGGAGAATGGTGGCTTGTTTGAG | GTTGGA c.720
L V L W L C H E S C E E N G G L F E | V G p.240
. | 11 . . . . g.46406
GCAGGATGGATTGGAAAAT | TACGCTGGGAGCGGACTCTTGGAGCTATTGTAAGACAAAAG c.780
A G W I G K L | R W E R T L G A I V R Q K p.260
. . . . . . g.46466
AATCACCCAATGACTCCTGAGGCAGTCAAGGCTAACTGGAAGAAGATCTGTGACTTTGAG c.840
N H P M T P E A V K A N W K K I C D F E p.280
. . | 12 . . . g.49122
AATGCCAGCAAGCCTCAGAGTATCCAAG | AATCAACTGGCAGTATAATTGAAGTTCTGAGT c.900
N A S K P Q S I Q E | S T G S I I E V L S p.300
. . . . . . g.49182
AAAATAGATTCAGAAGGAGGAGTTTCAGCAAATCATACTAGTCGTGCAACGTCTACAGCA c.960
K I D S E G G V S A N H T S R A T S T A p.320
. | 13 . . . . . g.51912
ACATCAGGATTT | GCTGGAGCTATTGGCCAGAAACTCCCTCCATTTTCTTATGCTTATACG c.1020
T S G F | A G A I G Q K L P P F S Y A Y T p.340
. . . . . . g.51972
GAACTGGAAGCTATTATGTATGCCCTTGGAGTGGGAGCGTCAATCAAGGATCCAAAAGAT c.1080
E L E A I M Y A L G V G A S I K D P K D p.360
. . . . . . g.52032
TTGAAATTTATTTATGAAGGAAGTTCTGATTTCTCCTGTTTGCCCACCTTCGGAGTTATC c.1140
L K F I Y E G S S D F S C L P T F G V I p.380
. . . . . . g.52092
ATAGGTCAGAAATCTATGATGGGTGGAGGATTAGCAGAAATTCCTGGACTTTCAATCAAC c.1200
I G Q K S M M G G G L A E I P G L S I N p.400
| 14 . . . . . g.54639
TTTGCAAAG | GTTCTTCATGGAGAGCAGTACTTAGAGTTATATAAACCACTTCCCAGAGCA c.1260
F A K | V L H G E Q Y L E L Y K P L P R A p.420
| 15 . . . . . . g.59424
G | GAAAATTAAAATGTGAAGCAGTTGTTGCTGATGTCCTAGATAAAGGATCCGGTGTAGTG c.1320
G | K L K C E A V V A D V L D K G S G V V p.440
. | 16 . . . . . g.61735
ATTATTATGGATG | TCTATTCTTATTCTGAGAAGGAACTTATATGCCACAATCAGTTCTCT c.1380
I I M D V | Y S Y S E K E L I C H N Q F S p.460
. . . . . | 17. g.67531
CTCTTTCTTGTTGGCTCTGGAGGCTTTGGTGGAAAACGGACATCAGACAAAGTCAAG | GTA c.1440
L F L V G S G G F G G K R T S D K V K | V p.480
. . . . . . g.67591
GCTGTAGCCATACCTAATAGACCTCCTGATGCTGTACTTACAGATACCACCTCTCTTAAT c.1500
A V A I P N R P P D A V L T D T T S L N p.500
| 18 . . . . . . g.77820
CAG | GCTGCTTTGTACCGCCTCAGTGGAGACTGGAATCCCTTACACATTGATCCTAACTTT c.1560
Q | A A L Y R L S G D W N P L H I D P N F p.520
. | 19 . . . . . g.78511
GCTAGTCTAGCAG | GTTTTGACAAGCCCATATTACATGGATTATGTACATTTGGATTTTCT c.1620
A S L A G | F D K P I L H G L C T F G F S p.540
. . . . . . g.78571
GCCAGGCGTGTGTTACAGCAGTTTGCAGATAATGATGTGTCAAGATTCAAGGCAATTAAG c.1680
A R R V L Q Q F A D N D V S R F K A I K p.560
| 20 . . . . . . g.79740
| GCTCGTTTTGCAAAACCAGTATATCCAGGACAAACTCTACAAACTGAGATGTGGAAGGAA c.1740
| A R F A K P V Y P G Q T L Q T E M W K E p.580
. . | 21. . . . g.82474
GGAAACAGAATTCATTTTCAAACCAAG | GTCCAAGAAACTGGAGACATTGTCATTTCAAAT c.1800
G N R I H F Q T K | V Q E T G D I V I S N p.600
. . . . . | 22 . g.83819
GCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACACCCTCTGAG | GGCGGG c.1860
A Y V D L A P T S G T S A K T P S E | G G p.620
. . . . . . g.83879
AAGCTTCAGAGTACCTTTGTATTTGAGGAAATAGGACGCCGCCTAAAGGATATTGGGCCT c.1920
K L Q S T F V F E E I G R R L K D I G P p.640
. . . . . . g.83939
GAGGTGGTGAAGAAAGTAAATGCTGTATTTGAGTGGCATATAACCAAAGGCGGAAATATT c.1980
E V V K K V N A V F E W H I T K G G N I p.660
. | 23 . . . . . g.89017
GGGGCTAAGTGGA | CTATTGACCTGAAAAGTGGTTCTGGAAAAGTGTACCAAGGCCCTGCA c.2040
G A K W T | I D L K S G S G K V Y Q G P A p.680
. . . . . . g.89077
AAAGGTGCTGCTGATACAACAATCATACTTTCAGATGAAGATTTCATGGAGGTGGTCCTG c.2100
K G A A D T T I I L S D E D F M E V V L p.700
. . | 24 . . . . g.94491
GGCAAGCTTGACCCTCAGAAG | GCATTCTTTAGTGGCAGGCTGAAGGCCAGAGGGAACATC c.2160
G K L D P Q K | A F F S G R L K A R G N I p.720
. . . . . g.94542
ATGCTGAGCCAGAAACTTCAGATGATTCTTAAAGACTACGCCAAGCTCTGA c.2211
M L S Q K L Q M I L K D Y A K L X p.736
. . . . . . g.94602
agggcacactacactattaataaaaatggaatcattaaatactctcttcacccaaatatg c.*60
. . . . . . g.94662
cttgattattctgcaaaagtgattagaactaagatgcaggggaaattgcttaacattttc c.*120
. . . . . . g.94722
agatatcagataactgcagattttcattttctactaatttttcatgtatcattattttta c.*180
. . . . . . g.94782
caaggaactatatataagctagcacataattatccttctgttcttagatctgtatcttca c.*240
. . . . . . g.94842
taataaaaaattttgcccaagtcctgtttccttagaatttgtgatagcattgataagttg c.*300
. . . . g.94883
aaaggaaaattaaatcaataaaggcctttgatacctttgtt c.*341
(downstream sequence)
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