(used for variant description)
(last modified November 29, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_139318.4 in the KCNH5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034062.1, covering KCNH5 transcript NM_139318.4.
(upstream sequence)
. . . . . g.5052
gcatccccccctcccccgccgcggatcctggccgctgctctccagacccagg c.-1
. . . . . . g.5112
ATGCCGGGGGGCAAGAGAGGGCTGGTGGCACCGCAGAACACATTTTTGGAGAACATCGTC c.60
M P G G K R G L V A P Q N T F L E N I V p.20
. | 02 . . . . . g.33331
AGGCGCTCCAGTG | AATCAAGTTTCTTACTGGGAAATGCCCAGATTGTGGATTGGCCTGTA c.120
R R S S E | S S F L L G N A Q I V D W P V p.40
. . . . . . g.33391
GTTTATAGTAATGACGGTTTTTGTAAACTCTCTGGATATCATCGAGCTGACGTCATGCAG c.180
V Y S N D G F C K L S G Y H R A D V M Q p.60
. | 03. . . . . g.43809
AAAAGCAGCACTTGCAG | TTTTATGTATGGGGAATTGACTGACAAGAAGACCATTGAGAAA c.240
K S S T C S | F M Y G E L T D K K T I E K p.80
. . . . . . g.43869
GTCAGGCAAACTTTTGACAACTACGAATCAAACTGCTTTGAAGTTCTTCTGTACAAGAAA c.300
V R Q T F D N Y E S N C F E V L L Y K K p.100
| 04 . . . . . . g.48835
AACA | GAACCCCTGTTTGGTTTTATATGCAAATTGCACCAATAAGAAATGAACATGAAAAG c.360
N R | T P V W F Y M Q I A P I R N E H E K p.120
. . . . . . g.48895
GTGGTCTTGTTCCTGTGTACTTTCAAGGATATTACGTTGTTCAAACAGCCAATAGAGGAT c.420
V V L F L C T F K D I T L F K Q P I E D p.140
. | 05 . . . . . g.63098
GATTCAACAAAAG | GTTGGACGAAATTTGCCCGATTGACACGGGCTTTGACAAATAGCCGA c.480
D S T K G | W T K F A R L T R A L T N S R p.160
. . . . . . g.63158
AGTGTTTTGCAGCAGCTCACGCCAATGAATAAAACAGAGGTGGTCCATAAACATTCAAGA c.540
S V L Q Q L T P M N K T E V V H K H S R p.180
| 06 . . . . . g.69025
CTAGCTGAA | GTTCTTCAGCTGGGATCAGATATCCTTCCTCAGTATAAACAAGAAGCGCCA c.600
L A E | V L Q L G S D I L P Q Y K Q E A P p.200
. . . . . . g.69085
AAGACGCCACCACACATTATTTTACATTATTGTGCTTTTAAAACTACTTGGGATTGGGTG c.660
K T P P H I I L H Y C A F K T T W D W V p.220
. . . . . . g.69145
ATTTTAATTCTTACCTTCTACACCGCCATTATGGTTCCTTATAATGTTTCCTTCAAAACA c.720
I L I L T F Y T A I M V P Y N V S F K T p.240
. . . . . . g.69205
AAGCAGAACAACATAGCCTGGCTGGTACTGGATAGTGTGGTGGACGTTATTTTTCTGGTT c.780
K Q N N I A W L V L D S V V D V I F L V p.260
. . . . . . g.69265
GACATCGTTTTAAATTTTCACACGACTTTCGTGGGGCCCGGTGGAGAGGTCATTTCTGAC c.840
D I V L N F H T T F V G P G G E V I S D p.280
. . . . . . g.69325
CCTAAGCTCATAAGGATGAACTATCTGAAAACTTGGTTTGTGATCGATCTGCTGTCTTGT c.900
P K L I R M N Y L K T W F V I D L L S C p.300
. . . . | 07 . . g.99697
TTACCTTATGACATCATCAATGCCTTTGAAAATGTGGATGAG | GGAATCAGCAGTCTCTTC c.960
L P Y D I I N A F E N V D E | G I S S L F p.320
. . . . . . g.99757
AGTTCTTTAAAAGTGGTGCGTCTCTTACGACTGGGCCGTGTGGCTAGGAAACTGGACCAT c.1020
S S L K V V R L L R L G R V A R K L D H p.340
. . . . . . g.99817
TACCTAGAATATGGAGCAGCAGTCCTCGTGCTCCTGGTGTGTGTGTTTGGACTGGTGGCC c.1080
Y L E Y G A A V L V L L V C V F G L V A p.360
. . . . . . g.99877
CACTGGCTGGCCTGCATATGGTATAGCATCGGAGACTACGAGGTCATTGATGAAGTCACT c.1140
H W L A C I W Y S I G D Y E V I D E V T p.380
. . . . . . g.99937
AACACCATCCAAATAGACAGTTGGCTCTACCAGCTGGCTTTGAGCATTGGGACTCCATAT c.1200
N T I Q I D S W L Y Q L A L S I G T P Y p.400
. . . . . . g.99997
CGCTACAATACCAGTGCTGGGATATGGGAAGGAGGACCCAGCAAGGATTCATTGTACGTG c.1260
R Y N T S A G I W E G G P S K D S L Y V p.420
. . . . . . g.100057
TCCTCTCTCTACTTTACCATGACAAGCCTTACAACCATAGGATTTGGAAACATAGCTCCT c.1320
S S L Y F T M T S L T T I G F G N I A P p.440
. . . . | 08 . g.200397
ACCACAGATGTGGAGAAGATGTTTTCGGTGGCTATGATGATGGTTGGCT | CTCTTCTTTAT c.1380
T T D V E K M F S V A M M M V G S | L L Y p.460
. . . . . . g.200457
GCAACTATTTTTGGAAATGTTACAACAATTTTCCAGCAAATGTATGCCAACACCAACCGA c.1440
A T I F G N V T T I F Q Q M Y A N T N R p.480
. . . . . . g.200517
TACCATGAGATGCTGAATAATGTACGGGACTTCCTAAAACTCTATCAGGTCCCAAAAGGC c.1500
Y H E M L N N V R D F L K L Y Q V P K G p.500
. . . . . . g.200577
CTTAGTGAGCGAGTCATGGATTATATTGTCTCAACATGGTCCATGTCAAAAGGCATTGAT c.1560
L S E R V M D Y I V S T W S M S K G I D p.520
| 09 . . . . . g.247708
ACAGAAAAG | GTCCTCTCCATCTGTCCCAAGGACATGAGAGCTGATATCTGTGTTCATCTA c.1620
T E K | V L S I C P K D M R A D I C V H L p.540
. . . . . . g.247768
AACCGGAAGGTTTTTAATGAACATCCTGCTTTTCGATTGGCCAGCGATGGGTGTCTGCGC c.1680
N R K V F N E H P A F R L A S D G C L R p.560
. . . . . . g.247828
GCCTTGGCGGTAGAGTTCCAAACCATTCACTGTGCTCCCGGGGACCTCATTTACCATGCT c.1740
A L A V E F Q T I H C A P G D L I Y H A p.580
. . . . . . g.247888
GGAGAAAGTGTGGATGCCCTCTGCTTTGTGGTGTCAGGATCCTTGGAAGTCATCCAGGAT c.1800
G E S V D A L C F V V S G S L E V I Q D p.600
. . | 10 . . . . g.270352
GATGAGGTGGTGGCTATTTTAG | GGAAGGGTGATGTATTTGGAGACATCTTCTGGAAGGAA c.1860
D E V V A I L G | K G D V F G D I F W K E p.620
. . . . . . g.270412
ACCACCCTTGCCCATGCATGTGCGAACGTCCGGGCACTGACGTACTGTGACCTACACATC c.1920
T T L A H A C A N V R A L T Y C D L H I p.640
. . . . . . g.270472
ATCAAGCGGGAAGCCTTGCTCAAAGTCCTGGACTTTTATACAGCTTTTGCAAACTCCTTC c.1980
I K R E A L L K V L D F Y T A F A N S F p.660
. . . | 11 . . g.341804
TCAAGGAATCTCACTCTTACTTGCAATCTGAGGAAACGG | ATCATCTTTCGTAAGATCAGT c.2040
S R N L T L T C N L R K R | I I F R K I S p.680
. . . . . . g.341864
GATGTGAAGAAAGAGGAGGAGGAGCGCCTCCGGCAGAAGAATGAGGTGACCCTCAGCATT c.2100
D V K K E E E E R L R Q K N E V T L S I p.700
. . . . . . g.341924
CCCGTGGACCACCCAGTCAGAAAGCTCTTCCAGAAGTTCAAGCAGCAGAAGGAGCTGCGG c.2160
P V D H P V R K L F Q K F K Q Q K E L R p.720
. . . . . . g.341984
AATCAGGGCTCAACACAGGGTGACCCTGAGAGGAACCAACTCCAGGTAGAGAGCCGCTCC c.2220
N Q G S T Q G D P E R N Q L Q V E S R S p.740
. . . . . . g.342044
TTACAGAATGGAGCCTCCATCACCGGAACCAGCGTGGTGACTGTGTCACAGATTACTCCC c.2280
L Q N G A S I T G T S V V T V S Q I T P p.760
. . . . . . g.342104
ATTCAGACGTCTCTGGCCTATGTGAAAACCAGTGAATCCCTTAAGCAGAACAACCGTGAT c.2340
I Q T S L A Y V K T S E S L K Q N N R D p.780
. . . . . . g.342164
GCCATGGAACTCAAGCCCAACGGCGGTGCTGACCAAAAATGTCTCAAAGTCAACAGCCCA c.2400
A M E L K P N G G A D Q K C L K V N S P p.800
. . . . . . g.342224
ATAAGAATGAAGAATGGAAATGGAAAAGGGTGGCTGCGACTCAAGAATAATATGGGAGCC c.2460
I R M K N G N G K G W L R L K N N M G A p.820
. . . . . . g.342284
CATGAGGAGAAAAAGGAAGACTGGAATAATGTCACTAAAGCTGAGTCAATGGGGCTATTG c.2520
H E E K K E D W N N V T K A E S M G L L p.840
. . . . . . g.342344
TCTGAGGACCCCAAGAGCAGTGATTCAGAGAACAGTGTGACCAAAAACCCACTAAGAAAA c.2580
S E D P K S S D S E N S V T K N P L R K p.860
. . . . . . g.342404
ACAGATTCTTGTGACAGTGGAATTACAAAAAGTGACCTTCGTTTGGATAAGGCTGGGGAG c.2640
T D S C D S G I T K S D L R L D K A G E p.880
. . . . . . g.342464
GCCCGAAGTCCGCTAGAGCACAGTCCCATCCAGGCTGATGCCAAGCACCCCTTTTATCCC c.2700
A R S P L E H S P I Q A D A K H P F Y P p.900
. . . . . . g.342524
ATCCCCGAGCAGGCCTTACAGACCACACTGCAGGAAGTCAAACACGAACTCAAAGAGGAC c.2760
I P E Q A L Q T T L Q E V K H E L K E D p.920
. . . . . . g.342584
ATCCAGCTGCTCAGCTGCAGAATGACTGCCCTAGAAAAGCAGGTGGCAGAAATTTTAAAA c.2820
I Q L L S C R M T A L E K Q V A E I L K p.940
. . . . . . g.342644
ATACTGTCGGAAAAAAGCGTACCCCAGGCCTCATCTCCCAAATCCCAAATGCCACTCCAA c.2880
I L S E K S V P Q A S S P K S Q M P L Q p.960
. . . . . . g.342704
GTACCCCCCCAGATACCATGTCAGGATATTTTTAGTGTCTCAAGGCCTGAATCACCTGAA c.2940
V P P Q I P C Q D I F S V S R P E S P E p.980
. . g.342731
TCTGACAAAGATGAAATCCACTTTTAA c.2967
S D K D E I H F X p.988
. . . . . . g.342791
tatatatacatatatatttgttaatatattaaaacagtatatacatatgtgtgtatatac c.*60
. . . . . . g.342851
agtatatacatatatatattttcacttgctttcaagatgatgaccacacatggattttga c.*120
. . . . . . g.342911
tatgtaaatattgcatgtccagctggattctggcctgccaaagaagatgatgattaaaaa c.*180
. . . . . . g.342971
catagatattgcttgtatattatgcagttgactgcatgcacactttacatttatttataa c.*240
. . . . . . g.343031
tctctattctataataaaagagtatgatttttgttacccaaggcaatgtaatatttgaag c.*300
. . . . . . g.343091
aatcagggtccaacctgccaatgttgccatgacaaatttgatctcaggctgagtatgtat c.*360
. . . . . . g.343151
atcgagctatcattttctcactgttctgttaagttaaaagtatagattaatgccaaggaa c.*420
. . . . . . g.343211
gagttcagtcttttaaactattagtaccatgttatgatctctttccataggatatttttc c.*480
. . . . . . g.343271
tgtaacttagtgttaggttcttttcccctacaggcagtgtttgctccatttaaatgactg c.*540
. . . . . . g.343331
tttagttgcctaagtcagataagagtgtgggatattgaaaacttattgctatgggttttg c.*600
. . . . . . g.343391
tgcatgaattacatttttgatcaactatacctctcgttttttaacattatacttagatag c.*660
. . . . . . g.343451
taatcattagctcttatgtaaggaaatccctactccctccttcttggagaacagctgcca c.*720
. . . . . . g.343511
tcttgtaagctgacattatcaacatcataaatactaaactattaatatagagtatgttat c.*780
. . . . . . g.343571
tatagaaacactgcaccacagggtataagggccttttgacaattcatgtaagagatgctg c.*840
. . . . . . g.343631
aatttccaaagctgataaatgctctaaatttgtatttccaaaacatgttcaagagtgaca c.*900
. . . g.343666
ttgaaaggcttgttagcaaagaaacatacaaaaaa c.*935
(downstream sequence)
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