(used for variant description)
(last modified July 14, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_178554.4 in the KY gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_054713.1, covering KY transcript NM_178554.4.
(upstream sequence)
g.5002
at c.-61
. . . . . . g.5062
ttgcagcgcaagcagcctagcgtgcggccgcggcgcccaggtcggaaaggaggcggcatc c.-1
. . . . . . g.5122
ATGGAGCTGAAGAAGGACATCAACGCTGTATCTATCGACATGCTGCTGATCGTGCACTCG c.60
M E L K K D I N A V S I D M L L I V H S p.20
. . . . . . g.5182
GAGAAGCGGCGCGCCGCACAGGGTACGCTCTCAGACCAGCAGGCGAACCCGAGCTCGCTG c.120
E K R R A A Q G T L S D Q Q A N P S S L p.40
. | 02 . . . . . g.8569
CTGCAGCGCGGAGGAG | GATTCCAAGGTGTTGGAAATGGAGTCCGAAGATGGCAGAAATTA c.180
L Q R G G G | F Q G V G N G V R R W Q K L p.60
. | 03 . . . . g.12685
GAAGGAAATGACTTTCACG | AAAACTTGGTGGAGAAGCAGCACCCTCAGCAGCCCCAGGTC c.240
E G N D F H E | N L V E K Q H P Q Q P Q V p.80
. . | 04 . . . . g.26365
ATCACTTCCTACAACAGCCAAG | GGACACAACTGACTGTGGAAGTCCACCCTCGAGATGCC c.300
I T S Y N S Q G | T Q L T V E V H P R D A p.100
. . . | 05. . . g.28227
ATGCCCCAGCTGCTCAAGAAGTTCTCCTTGGCTAAAC | GTTTACAAGGTGATAAAAATGGA c.360
M P Q L L K K F S L A K R | L Q G D K N G p.120
. . . . | 06 . . g.30907
AACACAAGACCCCGGCAACCTGGAGGGAAAGATGCCCATG | CCTACCCCTGGGATCGATCT c.420
N T R P R Q P G G K D A H A | Y P W D R S p.140
. . . . . . g.30967
AGCCTGAAATCCATGTCCCTGGACCTGCAGCAGTTTGAGAAATTGGATATCTACGCCTCA c.480
S L K S M S L D L Q Q F E K L D I Y A S p.160
| 07 . . . . . . g.35222
CAG | GTGACAGCCAAGAGTGGCCTAGACGAACTGGTGAGTGACCTGCTCCAGGAGGCCCAC c.540
Q | V T A K S G L D E L V S D L L Q E A H p.180
. . . . . | 08 . g.36765
ACTGACCTGGAAAGGGTCCGCGCCATCTGGATCTGGATCTGCCATCACATAG | AGTATGAC c.600
T D L E R V R A I W I W I C H H I E | Y D p.200
. . . . . . g.36825
ATTGCAGCTGCTCAGGAGAAGGACCGCCAAGCCTTCAAACCCACTGACATCCTGCGGACC c.660
I A A A Q E K D R Q A F K P T D I L R T p.220
. . . . . | 09 . g.45649
CAGAAGACCAACTGTGATGGCTATGCTGGCCTCTTCGAGAGAATGTGCAG | GCTCGCCGGA c.720
Q K T N C D G Y A G L F E R M C R | L A G p.240
. . . . . . g.45709
GTGCAGTGTATGACCGTGCCTGGCTACTCCAAGGGTTTCGGCTACCAGACAGGGCAGAGC c.780
V Q C M T V P G Y S K G F G Y Q T G Q S p.260
. . . . . . g.45769
TTCTCGGGGGAGTTTGACCATGCCTGGAATGCTGTGTACCTGGAGGGAAGATGGCACCTG c.840
F S G E F D H A W N A V Y L E G R W H L p.280
. . . . . | 10 g.47184
GTGGACAGCACCTGGGGCAGCGGCCTGGTGGACACCATCACCTCCAAATTCACCTTCCT | C c.900
V D S T W G S G L V D T I T S K F T F L | p.300
. . . . . . g.47244
TACAATGAGTTCTACTTCCTCACCCACCCTGCACTGTTCATCGAGGACCACTTCCCAGAC c.960
Y N E F Y F L T H P A L F I E D H F P D p.320
. . . . . . g.47304
AACAAGAACTGGCAGCTGCTAAAACCTCCTCAATCTCTGAGGCAGTTTGAGAACAACATG c.1020
N K N W Q L L K P P Q S L R Q F E N N M p.340
. . . . . . g.47364
TATCACAAGAGTGAATTCTACAACAAAGGGATGCTGAGTGCCCACCCAGAGACTTCCATG c.1080
Y H K S E F Y N K G M L S A H P E T S M p.360
. | 11 . . . . . g.51598
ATCAGAACAG | TGAATGGGAAGGCCACGGTCACCATTGAGAGCTGCGCCCCGACGCTGTTC c.1140
I R T V | N G K A T V T I E S C A P T L F p.380
. . . . . . g.51658
ATGTTCATGCTCAATGGCAAGCAAGAGCATGGGCTGCTGAGCCTAAGGAAGAATGGGATG c.1200
M F M L N G K Q E H G L L S L R K N G M p.400
. . . . . . g.51718
AAGTTGGAGGTGTACCCTCCAACCATGGGCACTCACAAGCTGCAGATCTTTGCCAAGGGC c.1260
K L E V Y P P T M G T H K L Q I F A K G p.420
. . . . . . g.51778
AACTCCGACATCTACAGCTCAGTGCTGGAGTACACGCTCAAGTGCAATTATGTGGACATG c.1320
N S D I Y S S V L E Y T L K C N Y V D M p.440
. . . . . . g.51838
GGTGTCCAGCTGCCTGCTGAGCTTCACCAGCCCGTGGGCCCCAGCTGGTTCTCGGAGCAG c.1380
G V Q L P A E L H Q P V G P S W F S E Q p.460
. . . . . . g.51898
ATGGGCATCATGAAGCCCTCCCACCCTGACCCTATCATCCACACCAGCGACGGGCGCTGC c.1440
M G I M K P S H P D P I I H T S D G R C p.480
. . . . . . g.51958
TCCATCAGCTTCAGCGTGGAGGAGGGCATTAATGTCCTGGCTTCCCTCCACGGGGATGAT c.1500
S I S F S V E E G I N V L A S L H G D D p.500
. . . . . . g.52018
GGCCCCATCACTGAGGAGACACAGCGGCGCTACATCTTCCAGCTGCACCGGGAGAAGCAG c.1560
G P I T E E T Q R R Y I F Q L H R E K Q p.520
. . . . . . g.52078
ACCGAGCTGAAAGTCCAGCTGCCCCATGCAGGCAAGTTTGCCCTCAAGATCTTTGTCAAG c.1620
T E L K V Q L P H A G K F A L K I F V K p.540
. . . . . . g.52138
AAGAGGCAGGAACCAGGAAACTACATCTTCGTCTTTAATTACCTTGTATGCTGTGCCAAC c.1680
K R Q E P G N Y I F V F N Y L V C C A N p.560
. . . . . . g.52198
ACCAAGGTGAACTGGCCCATGTTCCCTGAGAGCTTTGGCAACTGGGGACAGGACAATGAG c.1740
T K V N W P M F P E S F G N W G Q D N E p.580
. . . . . . g.52258
CTGCTGGAACCTCTGTCAGGTGTGCTTCCTGCCAACCGGAATGTCCCATTCAAATTGAAG c.1800
L L E P L S G V L P A N R N V P F K L K p.600
. . . . . . g.52318
CTGCATGGTATTGCCAAAGTCCTGGTGAAGGGGCAGGACACATGGCCCCTGACCCTGAAC c.1860
L H G I A K V L V K G Q D T W P L T L N p.620
. . . . . . g.52378
CACGAGGGCTACTGGGAGGGAAGCTGCAGCACAGCTGGCTGCCAGGAAGTCTATGTCATG c.1920
H E G Y W E G S C S T A G C Q E V Y V M p.640
. . . . . . g.52438
GTGCTGGAGAATGCCAACCACAATTTCTACTCCTACATCCTGAAATACAAAGTGAATGCC c.1980
V L E N A N H N F Y S Y I L K Y K V N A p.660
g.52444
CAGTGA c.1986
Q X p.661
. . . . . . g.52504
gggctgtgccccggtcttaccctcccaaagggccaaggccagacctccccagggagggct c.*60
. . . . . . g.52564
cgaaggaagtgcagggagccctggacaccactgagtctgcatgaaatcccttctaggcct c.*120
. . . . . . g.52624
ctgcctcagtgtcccacctctgccacaggagctgtgatctttgtgttctgaaggcttcac c.*180
. . . . . . g.52684
tcaggtgtggctgtgactgagggggcagaggcagtggctctttagaaggaaaaggtgcta c.*240
. . . . . . g.52744
tgtaaatctaaggtattgtaaactgtacacctgcatccagatgccccttctcgtattagt c.*300
. . . . . . g.52804
gctgctgctgttgttgttgctgtagggttgatgagggaaagcagggatattgcccaggtt c.*360
. . . . . . g.52864
gacagcttttcacatgatgcttagagaattctcttccatgcccaaggggacatgatttgc c.*420
. . . . . . g.52924
aaggctgggttgtccttgaatcacagagcccctttcaagcaatatcaccgtgcctctcga c.*480
. . . . . . g.52984
cagctccgagcccccagggaatcttggactatcttctcctcccagacctgatcatcttct c.*540
. . . . . . g.53044
gcatcctgctgcctcttcattagctacttcttgttcttcaagagcccaagaaaaagggtg c.*600
. . . . . . g.53104
tggtgaggaagccagctgacccacaactggctggaagctgatcgtctccaacatccctaa c.*660
. . . . . . g.53164
gtatagtcaggaatgtgacaaccagaaagttgtgaggagactgcaaagcaaagagcagcc c.*720
. . . . . . g.53224
catgcccgctgtggctgtgcaggtgggagggacactgtcggcagagctgcagccttggtc c.*780
. . . . . . g.53284
tgagggtgtaagacctccagctctgctctgagaggagtacacagggcaggtagttcagtc c.*840
. . . . . . g.53344
taaggcctggagtgccctccaggccctcacagagcctgggcctcaggcccctgccccacc c.*900
. . . . . . g.53404
tccacagagagcctccagaggctggccaggcccttggggagtcttgtggatagccctgaa c.*960
. . . . . . g.53464
taaggacctgggcgcagatcaggtgagtagtgcagtgcggcaatgccgaggagactcaca c.*1020
. . . . . . g.53524
ctttaacagggctctgcctgcccccagtgtctctaccagcaaagccagggctgggaagaa c.*1080
. . . . . . g.53584
ttccagctgcacgagagcagcttttgtgcctgtctcggagaaaacatcctatcccgtctc c.*1140
. . . . . . g.53644
ctttcctcccttctctgagaagacagccccctccagtctcaccttgcatggggacagctc c.*1200
. . . . . . g.53704
agggctccttgcttgctcaggcacagactgagaggcctcagctgcccagctggccctcag c.*1260
. . . . . . g.53764
cagcgcctcaggctgccgttgccatggcaacggaggaaaggctgacttcagcgagggcag c.*1320
. . . . . . g.53824
ataagagggaaaggcgagagaggccccacatggccactgcagaaccatcctggcacacag c.*1380
. . . . . . g.53884
acatgctccctgctgaactcccggcttctccagctccgtggcccctggctgtctcagtgc c.*1440
. . . . . . g.53944
cccccaacccctgagagccagcactgcctggcacctctccccacagcccctccacaggcc c.*1500
. . . . . . g.54004
tccaggctcaaccacagccagggccagctgggaccctcatagcttcctccgtggcactca c.*1560
. . . . . . g.54064
ccctcacatccctgtatccaacaaatgctcacagaagtaccagatgcttgggctacagag c.*1620
. . . . . . g.54124
gtgaaccaagggggcccggcccctgccatccagagtacagggtgaggaaactgccaggca c.*1680
. . . . . . g.54184
gcagcagccttccctgcccaggcctgactgaagatccaggctccagacacttctgttcat c.*1740
. . . . . . g.54244
tatcccccgggatccctcccctaaaagtccccactgccacccagcacggtggcctagccc c.*1800
. . . . . . g.54304
agaaccagctcacaagggtgcccatcatccaacaggccggcggcctcgagcaaaaggggt c.*1860
. . . . . . g.54364
gtctcccctggggggctgaactgtcctgggcaggtcctgcgccctccgcagtctctgcca c.*1920
. . . . . . g.54424
ccgaggccacccagccagcctcgtgtcactcacacctgaaaaatgcacaaaggccccgga c.*1980
. . . . . . g.54484
ggcataacagctatgcaccaccacagggaaacaaagggagttttacaccctgaaaacagc c.*2040
. . . . . . g.54544
cgtcttgcacacttctgattttatgggcttaaagaaatgtgtttgtttcatcaaaacaat c.*2100
. . . . . . g.54604
aagtgccttcgatgacgcatgtcactcactggaccccgcgctggctgcctcgcttagtcc c.*2160
. . . . . . g.54664
tgctggagacccccataccttttcgatatgcaatataattaatcaatacatcctggagca c.*2220
. . . . . . g.54724
ttgcagagaatgccacccagcaaaataggagctgtccccagcaccagagagggaggcccc c.*2280
. . . . . . g.54784
gcccctcaaagcaccgcagggcatcagcaagcccctccctctcgtttaactaggcacccc c.*2340
. . . . . . g.54844
ctttgtaaagacagctgtaggcgcagtcagaaaatcacctgcatttctttccactgaagt c.*2400
. . . . . . g.54904
aaaaatacatgaaatgaaatctaatcttcatgaatttttacacgcatgctgctcagggta c.*2460
. . . . . . g.54964
gacattcggagttgcattttgaaggcttttctttaaatccccatctttgtttcccgggcg c.*2520
. . . . . . g.55024
acgagtcccagtcgccggcggaatggcacgggcgcccccaggtgtccgaagtgcggagct c.*2580
. . . . . . g.55084
gccggcgctgcacaccgcgaggctgatctatcaccgggctttttcgcagaacttgaaaat c.*2640
. . . . . . g.55144
gctgtggaaatgtttatgttaaaatcactaggtgctttctcgtggcttctcagcgctacc c.*2700
. . . . . . g.55204
ttatgtgtacacggaggacatctttgtcacgcacaagctgtgagggcatcctgggggaca c.*2760
. . . . . . g.55264
acctggtgtgttgaaaagacaagggatgtgatgggactgttttgcctggaaataacttct c.*2820
. . . . . . g.55324
tgaaacagaagcacttgacataggactggatggaacagctgtgactacactcattactat c.*2880
. . . . . . g.55384
accattgaaggattggaaccgatcaaactcagaaagtatctgcttgcaattctcaggatg c.*2940
. . . . . . g.55444
gcagcccccaggccacagggcagaagggaaccgagggtggaggagtggtgggcagaggca c.*3000
. . . . . . g.55504
ctacaaccacaacttcagtacacttctttccagcttgtttcagaagtgccatagctcagc c.*3060
. . . . . . g.55564
tggactccattttcaatctgattatgatcattgtgagttccccatatgttacattgtcct c.*3120
. . . . . . g.55624
accaggacagcctcctcactgcctgctaagattaaaagtaaataaatagactaactgaag c.*3180
. . . . . . g.55684
catgaaggatttcggctagacataaagaactatttcctgttgttaagcaggagggacaag c.*3240
. . . . . . g.55744
ttgccaagaaagtttgtgaaatcctcttctcaaaggacttgaaaaggagaaaagttttcc c.*3300
. . . . . . g.55804
cagtggtctgaggttttagatgccatgttcactagaaggagtgggttttctcctctccaa c.*3360
. . . . . . g.55864
accaattaattcctgagatatcctggtctgcctgcagcaaacagagggttaacagcatca c.*3420
. . . . . . g.55924
ctacatcatttgctattggcaaaattttcgaagatggtgtgcctctattgcccgcctcag c.*3480
. . . . . . g.55984
tttatcttaggtctataatttcttttcatttggagtaagtagtcggcaattgaaagaggt c.*3540
. . . . . . g.56044
gattacttctcataatgtgtgcattgagttgtgtgggccggtggctgttgagtatgcttt c.*3600
. . . . . g.56100
ctccatgttgttgctggtgttgtttttcaataaaatttatattcatttttatccaa c.*3656
(downstream sequence)
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