(used for variant description)
(last modified September 7, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001966.3 in the EHHADH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015999.1, covering EHHADH transcript NM_001966.3.
(upstream sequence)
. g.5016
gaggaggccgggcgcg c.-61
. . . . . . g.5076
cccggaaaagtggtttgcctgacggcgagaggcagaggtgccctcggtgatagaggaaac c.-1
. . . . . . g.5136
ATGGCCGAGTATACGCGGCTGCACAACGCCTTGGCGCTAATCCGCCTCCGAAACCCGCCG c.60
M A E Y T R L H N A L A L I R L R N P P p.20
. | 02 . . . . . g.10627
GTCAACGCGATCAG | TACGACTTTACTCCGTGACATAAAAGAAGGACTACAGAAAGCTGTA c.120
V N A I S | T T L L R D I K E G L Q K A V p.40
. . . . . | 03 g.23638
ATAGACCATACAATAAAAGCCATTGTGATTTGTGGAGCAGAGGGCAAATTTTCTGCAG | GT c.180
I D H T I K A I V I C G A E G K F S A G | p.60
. . . . . . g.23698
GCTGATATTCGTGGCTTCAGTGCTCCTAGGACATTTGGCCTTACACTGGGACATGTAGTA c.240
A D I R G F S A P R T F G L T L G H V V p.80
. . . . . . g.23758
GATGAAATACAGAGAAATGAGAAGCCCGTGGTGGCAGCAATCCAAGGCATGGCTTTCGGA c.300
D E I Q R N E K P V V A A I Q G M A F G p.100
. . . . . | 04 . g.29564
GGGGGACTAGAGCTGGCCCTGGGCTGTCACTATAGGATTGCCCACGCAGAG | GCTCAAGTT c.360
G G L E L A L G C H Y R I A H A E | A Q V p.120
. . . . . . g.29624
GGCTTACCAGAAGTTACACTGGGACTTCTCCCTGGTGCAAGAGGAACCCAGCTTCTCCCC c.420
G L P E V T L G L L P G A R G T Q L L P p.140
. . . . | 05 . . g.40875
AGACTCACTGGAGTTCCTGCTGCACTTGACTTAATTACCTCAG | GAAGACGTATTTTAGCA c.480
R L T G V P A A L D L I T S G | R R I L A p.160
. . . . . . g.40935
GATGAAGCACTCAAGCTGGGCATTCTAGATAAAGTTGTAAACTCAGACCCGGTTGAAGAA c.540
D E A L K L G I L D K V V N S D P V E E p.180
. . | 06 . . . g.54373
GCAATCAGATTTGCTCAGAGAGTTTCAG | ATCAACCTCTAGAATCCCGTAGACTCTGCAAC c.600
A I R F A Q R V S D | Q P L E S R R L C N p.200
. . . . . . g.54433
AAGCCAATTCAGAGCTTGCCCAACATGGACAGCATTTTTAGTGAGGCCCTCTTGAAGATG c.660
K P I Q S L P N M D S I F S E A L L K M p.220
. . . . . . g.54493
CGGAGGCAGCACCCTGGGTGTCTTGCACAGGAGGCTTGTGTCCGTGCAGTCCAGGCTGCT c.720
R R Q H P G C L A Q E A C V R A V Q A A p.240
. . . . . . g.54553
GTGCAGTATCCCTATGAAGTGGGCATCAAGAAGGAGGAGGAGCTGTTTCTATATCTTTTG c.780
V Q Y P Y E V G I K K E E E L F L Y L L p.260
. . . . . . g.54613
CAATCAGGGCAGGCTAGAGCCCTGCAATATGCTTTCTTCGCTGAAAGGAAAGCAAATAAG c.840
Q S G Q A R A L Q Y A F F A E R K A N K p.280
. . . . . . g.54673
TGGTCAACTCCCTCCGGAGCATCGTGGAAAACAGCATCAGCGCGGCCTGTCTCCTCAGTT c.900
W S T P S G A S W K T A S A R P V S S V p.300
. | 07 . . . . . g.65661
GGTGTTGTTG | GCTTGGGAACAATGGGCCGAGGCATTGTCATTTCTTTTGCAAGGGCCAGG c.960
G V V G | L G T M G R G I V I S F A R A R p.320
. . . . . . g.65721
ATTCCTGTGATTGCTGTAGACTCGGACAAAAACCAGCTAGCAACTGCAAACAAGATGATA c.1020
I P V I A V D S D K N Q L A T A N K M I p.340
. . . . . . g.65781
ACCTCTGTCTTGGAAAAAGAAGCCTCCAAAATGCAACAGAGCGGCCACCCTTGGTCAGGA c.1080
T S V L E K E A S K M Q Q S G H P W S G p.360
. . . . . . g.65841
CCAAAACCCAGGTTAACTTCATCTGTGAAGGAGCTTGGTGGTGTAGATTTAGTCATTGAA c.1140
P K P R L T S S V K E L G G V D L V I E p.380
. . . . . . g.65901
GCAGTATTTGAGGAAATGAGCCTGAAGAAGCAGGTCTTTGCTGAACTCTCAGCTGTGTGC c.1200
A V F E E M S L K K Q V F A E L S A V C p.400
. . . . . . g.65961
AAACCAGAAGCATTTTTGTGCACTAATACTTCAGCCCTGGATGTTGATGAGATTGCTTCT c.1260
K P E A F L C T N T S A L D V D E I A S p.420
. . . . . . g.66021
TCCACTGATCGTCCTCACTTGGTCATTGGCACCCACTTCTTTTCGCCAGCTCATGTCATG c.1320
S T D R P H L V I G T H F F S P A H V M p.440
. . . . . . g.66081
AAGTTGTTAGAGGTTATTCCCAGCCAATACTCTTCCCCCACTACCATTGCCACTGTTATG c.1380
K L L E V I P S Q Y S S P T T I A T V M p.460
. . . . . . g.66141
AACTTATCAAAAAAGATTAAAAAGATTGGAGTCGTTGTAGGCAACTGTTTTGGATTTGTG c.1440
N L S K K I K K I G V V V G N C F G F V p.480
. . . . . . g.66201
GGGAATCGAATGTTGAATCCTTACTACAATCAGGCATATTTCTTGTTAGAAGAAGGCAGC c.1500
G N R M L N P Y Y N Q A Y F L L E E G S p.500
. . . . . . g.66261
AAACCAGAGGAGGTAGATCAGGTGCTGGAAGAGTTTGGTTTTAAAATGGGACCTTTTAGA c.1560
K P E E V D Q V L E E F G F K M G P F R p.520
. . . . . . g.66321
GTGTCTGATCTTGCTGGGTTGGATGTGGGCTGGAAATCTAGAAAGGGGCAAGGTCTTACT c.1620
V S D L A G L D V G W K S R K G Q G L T p.540
. . . . . . g.66381
GGACCTACATTGCTTCCAGGAACTCCTGCCCGAAAAAGGGGTAATAGGAGGTACTGCCCA c.1680
G P T L L P G T P A R K R G N R R Y C P p.560
. . . . . . g.66441
ATTCCTGATGTGCTCTGTGAATTAGGACGATTTGGCCAGAAGACAGGTAAGGGTTGGTAT c.1740
I P D V L C E L G R F G Q K T G K G W Y p.580
. . . . . . g.66501
CAATATGACAAGCCATTGGGTAGGATTCACAAACCTGATCCCTGGCTTTCCAAATTCCTA c.1800
Q Y D K P L G R I H K P D P W L S K F L p.600
. . . . . . g.66561
TCACGGTATAGAAAAACCCATCACATTGAACCACGTACCATTAGCCAGGATGAGATCCTT c.1860
S R Y R K T H H I E P R T I S Q D E I L p.620
. . . . . . g.66621
GAACGCTGCTTATATTCACTTATCAATGAAGCATTCCGTATCTTGGGAGAAGGGATAGCT c.1920
E R C L Y S L I N E A F R I L G E G I A p.640
. . . . . . g.66681
GCTAGCCCAGAGCACATTGATGTTGTCTATTTACATGGATATGGATGGCCAAGGCACAAG c.1980
A S P E H I D V V Y L H G Y G W P R H K p.660
. . . . . . g.66741
GGCGGGCCCATGTTCTATGCTTCCACAGTTGGGTTGCCCACAGTTCTAGAGAAATTGCAG c.2040
G G P M F Y A S T V G L P T V L E K L Q p.680
. . . . . . g.66801
AAATATTACAGGCAGAACCCTGATATTCCCCAACTGGAGCCAAGTGACTATCTAAAAAAA c.2100
K Y Y R Q N P D I P Q L E P S D Y L K K p.700
. . . . . . g.66861
CTGGCTTCTCAGGGAAACCCTCCCCTGAAAGAATGGCAAAGCTTGGCAGGCTCCCCTAGC c.2160
L A S Q G N P P L K E W Q S L A G S P S p.720
. g.66873
AGTAAATTGTGA c.2172
S K L X p.723
. . . . . . g.66933
ttcagtcttccagattatgcctcacatgctagcatcaggtaatgctgactgaatttcagt c.*60
. . . . . . g.66993
gaaattaaatcaaaaatccaaagtaagattgttctgaaatacaaagcaaaataaataatc c.*120
. . . . . . g.67053
attagaatcttctgtgtaacgactctaatggtcaaatctttaggaatgtgcttcctatgc c.*180
. . . . . . g.67113
ctctgaatctgtccttatcagataaattcaatgcatgaacttgtgtgaatataataccat c.*240
. . . . . . g.67173
aatagctaatgaaagaggctcaggcataagttgagattctcaaatgcttttatcattgga c.*300
. . . . . . g.67233
taaatgtgtcatcaattaataaatgataaatgcagctaagtcatacattcattttgactc c.*360
. . . . . . g.67293
ctttcaatgtcacacacatagtattgatcagaaatcttatgaatcatacatacactcaac c.*420
. . . . . . g.67353
aaacattaaagttgtaggaaaaagacagttggaaattggtaagggaactgagtacttcaa c.*480
. . . . . . g.67413
accagcacagggaacttaggttagtgtggcaagcctttcctcttctggtctttcctcttc c.*540
. . . . . . g.67473
tgtttatggagaaataatagaaagtagtaagtcgttaacttagtgtaagaagggtcttag c.*600
. . . . . . g.67533
agaacatctaaccttctaggatttcccaattctgtgatagagtaatgacaccagttttcc c.*660
. . . . . . g.67593
tgtcatgacaagcctctgtgatgttacatatggaaatggttgaatcttgaaaaatctaaa c.*720
. . . . . . g.67653
attgttgcaaaacatattttgtatgattttgttgtaagagttcttctctttttacttttt c.*780
. . . . . . g.67713
gccttgtgtagttaaaaattaaggggctggtcaatacaaaaacttgtacacaaatattta c.*840
. . . . . . g.67773
tagcagaattattcataatggccaaaagctgaatacaacccaaatgtctatgaactaatg c.*900
. . . . . . g.67833
aatagataaaccaaatctggtatatccatacaatggactatattattcagccataaaaag c.*960
. . . . . . g.67893
aaataaagggccaggcacagtggctcacacctgtaatcccagcactttgggaggctgagg c.*1020
. . . . . . g.67953
caggaggattgtttgaggccagaaatttgagaccagcctgggcaacatagcaaaaccctg c.*1080
. . . . . . g.68013
tctctacaaaaaatactttccgtacattagtggttgcctaaggctagaattgggggtgat c.*1140
. . . . . . g.68073
gaatggggagtacaggattcatctaatgggtacaggatttctttatggttcatgaaaatg c.*1200
. . . . . . g.68133
gtctaaacttattgtggtaatggtcacataacaatatattaaaaaccattgagttgtata c.*1260
. . . . . . g.68193
ttttaagtgggtgaattatatggtatgtgaattatatctcaataaagttgttagtaaata c.*1320
. . . . . . g.68253
aatggggctgaagatgttatccttcattgtggtgtaaatgaactttcacaatattttcac c.*1380
. . . . . . g.68313
ctgtgaacccaaataaaatgattaaagttctgatggaaaaatcttgaatggagtataagt c.*1440
. . . . . . g.68373
tttccgttgttaaaaagcaaacaaaaaaccaacaaaaaatccaagtgtgccttgaattgt c.*1500
. . . . . . g.68433
acagagcacaattattatgtttgaaatgtgtactacttaattttatataatttggtttgt c.*1560
. . . . g.68475
gaaattaaagacatcaataaaaatgattcctgaaagtagtaa c.*1602
(downstream sequence)
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