(used for variant description)
(last modified July 7, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001102416.2 in the KNG1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering KNG1 transcript NM_001102416.2.
(upstream sequence)
. . . . . g.5054
agtgttgcaatgttctagctgtaaatatgtttggataacccagcagagccattt c.-181
. . . . . . g.5114
aacctttgggaacaaggcaactagcgtctggcagcaggaatccaaccagtgccctgagtt c.-121
. . . . . . g.5174
ctgaggcagagaggaggacagaagaaacaagaggctggagattgtcaaattcagtatccc c.-61
. . . . . . g.5234
agttggctcttgattcttggtgaaaccatccctcagctcctagagggagattgttagatc c.-1
. . . . . . g.5294
ATGAAACTAATTACCATCCTTTTCCTCTGCTCCAGGCTGCTACTAAGTTTAACCCAGGAA c.60
M K L I T I L F L C S R L L L S L T Q E p.20
. . . . . . g.5354
TCACAGTCCGAGGAAATTGACTGCAATGACAAGGATTTATTTAAAGCTGTGGATGCTGCT c.120
S Q S E E I D C N D K D L F K A V D A A p.40
. . . . . . g.5414
CTGAAGAAATATAACAGTCAAAACCAAAGTAACAACCAGTTTGTATTGTACCGCATAACT c.180
L K K Y N S Q N Q S N N Q F V L Y R I T p.60
. | 02 . . . . . g.7841
GAAGCCACTAAGACG | GTTGGCTCTGACACGTTTTATTCCTTCAAGTACGAAATCAAGGAG c.240
E A T K T | V G S D T F Y S F K Y E I K E p.80
. . . . . . g.7901
GGGGATTGTCCTGTTCAAAGTGGCAAAACCTGGCAGGACTGTGAGTACAAGGATGCTGCA c.300
G D C P V Q S G K T W Q D C E Y K D A A p.100
| 03 . . . . . . g.10182
AAAGCA | GCCACTGGAGAATGCACGGCAACCGTGGGGAAGAGGAGCAGTACGAAATTCTCC c.360
K A | A T G E C T A T V G K R S S T K F S p.120
. . . | 04 . . . g.12808
GTGGCTACCCAGACCTGCCAGATTACTCCAG | CCGAGGGCCCTGTGGTGACAGCCCAGTAC c.420
V A T Q T C Q I T P A | E G P V V T A Q Y p.140
. . . . . . g.12868
GACTGCCTCGGCTGTGTGCATCCTATATCAACGCAGAGCCCAGACCTGGAGCCCATTCTG c.480
D C L G C V H P I S T Q S P D L E P I L p.160
. . . . . . g.12928
AGACACGGCATTCAGTACTTTAACAACAACACTCAACATTCCTCCCTCTTCATGCTTAAT c.540
R H G I Q Y F N N N T Q H S S L F M L N p.180
. . | 05 . . . . g.14964
GAAGTAAAACGGGCCCAAAGACAG | GTGGTGGCTGGATTGAACTTTCGAATTACCTACTCA c.600
E V K R A Q R Q | V V A G L N F R I T Y S p.200
. . . . . . g.15024
ATTGTGCAAACGAATTGTTCCAAAGAGAATTTTCTGTTCTTAACTCCAGACTGCAAGTCC c.660
I V Q T N C S K E N F L F L T P D C K S p.220
. | 06 . . . . . g.19284
CTTTGGAATGGT | GATACCGGTGAATGTACAGATAATGCATACATCGATATTCAGCTACGA c.720
L W N G | D T G E C T D N A Y I D I Q L R p.240
. . . | 07. . . g.20216
ATTGCTTCCTTCTCACAGAACTGTGACATTTATCCAG | GGAAGGATTTTGTACAACCACCT c.780
I A S F S Q N C D I Y P G | K D F V Q P P p.260
. . . . . . g.20276
ACCAAGATTTGCGTGGGCTGCCCCAGAGATATACCCACCAACAGCCCAGAGCTGGAGGAG c.840
T K I C V G C P R D I P T N S P E L E E p.280
. . . . . . g.20336
ACACTGACTCACACCATCACAAAGCTTAATGCAGAGAATAACGCAACTTTCTATTTCAAG c.900
T L T H T I T K L N A E N N A T F Y F K p.300
. . . | 08 . . . g.26820
ATTGACAATGTGAAAAAAGCAAGAGTACAG | GTGGTGGCTGGCAAGAAATATTTTATTGAC c.960
I D N V K K A R V Q | V V A G K K Y F I D p.320
. . . . . . g.26880
TTCGTGGCCAGGGAAACCACATGTTCCAAGGAAAGTAATGAAGAGTTGACCGAAAGCTGT c.1020
F V A R E T T C S K E S N E E L T E S C p.340
. | 09 . . . . g.27061
GAGACCAAAAAACTTGGC | CAAAGCCTAGATTGCAACGCTGAAGTTTATGTGGTACCCTGG c.1080
E T K K L G | Q S L D C N A E V Y V V P W p.360
. . . . | 10 . . g.29228
GAGAAAAAAATTTACCCTACTGTCAACTGTCAACCACTGGGAATG | ATCTCACTGATGAAA c.1140
E K K I Y P T V N C Q P L G M | I S L M K p.380
. . . . . . g.29288
AGGCCTCCAGGTTTTTCACCTTTCCGATCATCACGAATAGGGGAAATAAAAGAAGAAACA c.1200
R P P G F S P F R S S R I G E I K E E T p.400
. . . . . . g.29348
ACTGTAAGTCCACCCCACACTTCCATGGCACCTGCACAAGATGAAGAGCGGGATTCAGGA c.1260
T V S P P H T S M A P A Q D E E R D S G p.420
. . . . . . g.29408
AAAGAACAAGGGCATACTCGTAGACATGACTGGGGCCATGAAAAACAAAGAAAACATAAT c.1320
K E Q G H T R R H D W G H E K Q R K H N p.440
. . . . . . g.29468
CTTGGCCATGGCCATAAACATGAACGTGACCAAGGGCATGGGCACCAAAGAGGACATGGC c.1380
L G H G H K H E R D Q G H G H Q R G H G p.460
. . . . . . g.29528
CTTGGCCATGGACACGAACAACAGCATGGTCTTGGTCATGGACATAAGTTCAAACTTGAT c.1440
L G H G H E Q Q H G L G H G H K F K L D p.480
. . . . . . g.29588
GATGATCTTGAACACCAAGGGGGCCATGTCCTTGACCATGGACATAAGCATAAGCATGGT c.1500
D D L E H Q G G H V L D H G H K H K H G p.500
. . . . . . g.29648
CATGGCCACGGAAAACATAAAAATAAAGGCAAAAAGAATGGAAAGCACAATGGTTGGAAA c.1560
H G H G K H K N K G K K N G K H N G W K p.520
. . . . . . g.29708
ACAGAGCATTTGGCAAGCTCTTCTGAAGACAGTACTACACCTTCTGCACAGACACAAGAG c.1620
T E H L A S S S E D S T T P S A Q T Q E p.540
. . . . . . g.29768
AAGACAGAAGGGCCAACACCCATCCCTTCCCTAGCCAAGCCAGGTGTAACAGTTACCTTT c.1680
K T E G P T P I P S L A K P G V T V T F p.560
. . . . . . g.29828
TCTGACTTTCAGGACTCTGATCTCATTGCAACTATGATGCCTCCTATATCACCAGCTCCC c.1740
S D F Q D S D L I A T M M P P I S P A P p.580
. . . . . . g.29888
ATACAGAGTGATGACGATTGGATCCCTGATATCCAGATAGACCCAAATGGCCTTTCATTT c.1800
I Q S D D D W I P D I Q I D P N G L S F p.600
. . . . . . g.29948
AACCCAATATCAGATTTTCCAGACACGACCTCCCCAAAATGTCCTGGACGCCCCTGGAAG c.1860
N P I S D F P D T T S P K C P G R P W K p.620
. . . . . . g.30008
TCAGTTAGTGAAATTAATCCAACCACACAAATGAAAGAATCTTATTATTTCGATCTCACT c.1920
S V S E I N P T T Q M K E S Y Y F D L T p.640
. g.30023
GATGGCCTTTCTTAA c.1935
D G L S X p.644
. . . . . . g.30083
tttaagtggctatgggtatttctttcatactttattaaagtatcaatatccctctctcca c.*60
. . . . . . g.30143
ttgtccagatgaaaatatcctgatataatgcaccaaaaaccatgcagcttcggaacagtc c.*120
. . . . . . g.30203
taaagagaagtggtgagactcccagtggagacaccatcagtctccacggactgcataaaa c.*180
. . . . . . g.30263
ttgtgtgccacaattctaactcttttctgaatcttcttcccaagttttctaaactagcac c.*240
. . . . . . g.30323
agtaaacagacaaactaatgtgccgtatggcctgctgcaattggcttctctgataacaaa c.*300
. . . . . . g.30383
tatgtaccttacaacatatgtcatgaatttgcatacaaagattcttgtcattcttaataa c.*360
. . . . . . g.30443
actgtggcacttggtatttgaatgtgtgtgaaaataagggaagtcaagagattaaatgct c.*420
. . . . . . g.30503
gaacttattaatggaatagaaataataaggaggctgaggctggagaattgcttgaacccg c.*480
. . . . . . g.30563
ggaggcggaggttgcagtgagccgagatcgtgccactgcgctccagcctgggcatcagag c.*540
. . g.30586
caagattctgtctcagaaaaaaa c.*563
(downstream sequence)
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