(used for variant description)
(last modified July 7, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000892.3 in the KLKB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering KLKB1 transcript NM_000892.3.
(upstream sequence)
. g.5011
agaacagcttg c.-61
. . . . . . | 02 g.5678
aagaccgttcatttttaagtgacaagagactcacctccaagaagcaattgtgttttcag | a c.-1
. . . . . | 03 g.9611
ATGATTTTATTCAAGCAAGCAACTTATTTCATTTCCTTGTTTGCTACAGTTTCCTGTG | GA c.60
M I L F K Q A T Y F I S L F A T V S C G | p.20
. . . . . . g.9671
TGTCTGACTCAACTCTATGAAAACGCCTTCTTCAGAGGTGGGGATGTAGCTTCCATGTAC c.120
C L T Q L Y E N A F F R G G D V A S M Y p.40
. . . . . . g.9731
ACCCCAAATGCCCAATACTGCCAGATGAGGTGCACATTCCACCCAAGGTGTTTGCTATTC c.180
T P N A Q Y C Q M R C T F H P R C L L F p.60
. . . . | 04 . . g.11453
AGTTTTCTTCCAGCAAGTTCAATCAATGACATGGAGAAAAG | GTTTGGTTGCTTCTTGAAA c.240
S F L P A S S I N D M E K R | F G C F L K p.80
. . . . . . g.11513
GATAGTGTTACAGGAACCCTGCCAAAAGTACATCGAACAGGTGCAGTTTCTGGACATTCC c.300
D S V T G T L P K V H R T G A V S G H S p.100
. . | 05 . . . g.14295
TTGAAGCAATGTGGTCATCAAATAAGTG | CTTGCCATCGAGACATTTATAAAGGAGTTGAT c.360
L K Q C G H Q I S A | C H R D I Y K G V D p.120
. . . . . . g.14355
ATGAGAGGAGTCAATTTTAATGTGTCTAAGGTTAGCAGTGTTGAAGAATGCCAAAAAAGG c.420
M R G V N F N V S K V S S V E E C Q K R p.140
. . . . . . g.14415
TGCACCAGTAACATTCGCTGCCAGTTTTTTTCATATGCCACGCAAACATTTCACAAGGCA c.480
C T S N I R C Q F F S Y A T Q T F H K A p.160
| 06 . . . . . g.15790
GAGTACCG | GAACAATTGCCTATTAAAGTACAGTCCCGGAGGAACACCTACCGCTATAAAG c.540
E Y R | N N C L L K Y S P G G T P T A I K p.180
. . . . . | 07 g.27727
GTGCTGAGTAACGTGGAATCTGGATTCTCACTGAAGCCCTGTGCCCTTTCAGAAATTG | GT c.600
V L S N V E S G F S L K P C A L S E I G | p.200
. . . . . . g.27787
TGCCACATGAACATCTTCCAGCATCTTGCGTTCTCAGATGTGGATGTTGCCAGGGTTCTC c.660
C H M N I F Q H L A F S D V D V A R V L p.220
. . . . . . g.27847
ACTCCAGATGCTTTTGTGTGTCGGACCATCTGCACCTATCACCCCAACTGCCTCTTCTTT c.720
T P D A F V C R T I C T Y H P N C L F F p.240
. . . | 08 . . g.28723
ACATTCTATACAAATGTATGGAAAATCGAGTCACAAAG | AAATGTTTGTCTTCTTAAAACA c.780
T F Y T N V W K I E S Q R | N V C L L K T p.260
. . . . . . g.28783
TCTGAAAGTGGCACACCAAGTTCCTCTACTCCTCAAGAAAACACCATATCTGGATATAGC c.840
S E S G T P S S S T P Q E N T I S G Y S p.280
. . | 09 . . . g.29001
CTTTTAACCTGCAAAAGAACTTTACCTG | AACCCTGCCATTCTAAAATTTACCCGGGAGTT c.900
L L T C K R T L P E | P C H S K I Y P G V p.300
. . . . . . g.29061
GACTTTGGAGGAGAAGAATTGAATGTGACTTTTGTTAAAGGAGTGAATGTTTGCCAAGAG c.960
D F G G E E L N V T F V K G V N V C Q E p.320
. . . . . . g.29121
ACTTGCACAAAGATGATTCGCTGTCAGTTTTTCACTTATTCTTTACTCCCAGAAGACTGT c.1020
T C T K M I R C Q F F T Y S L L P E D C p.340
. | 10 . . . . . g.29280
AAGGAAGAGAA | GTGTAAGTGTTTCTTAAGATTATCTATGGATGGTTCTCCAACTAGGATT c.1080
K E E K | C K C F L R L S M D G S P T R I p.360
. . . . . . g.29340
GCGTATGGGACACAAGGGAGCTCTGGTTACTCTTTGAGATTGTGTAACACTGGGGACAAC c.1140
A Y G T Q G S S G Y S L R L C N T G D N p.380
| 11 . . . . . . g.29555
TCTG | TCTGCACAACAAAAACAAGCACACGCATTGTTGGAGGAACAAACTCTTCTTGGGGA c.1200
S V | C T T K T S T R I V G G T N S S W G p.400
. . . . . . g.29615
GAGTGGCCCTGGCAGGTGAGCCTGCAGGTGAAGCTGACAGCTCAGAGGCACCTGTGTGGA c.1260
E W P W Q V S L Q V K L T A Q R H L C G p.420
. . . . . | 12 . g.32077
GGGTCACTCATAGGACACCAGTGGGTCCTCACTGCTGCCCACTGCTTTGATGG | GCTTCCC c.1320
G S L I G H Q W V L T A A H C F D G | L P p.440
. . . . . . g.32137
CTGCAGGATGTTTGGCGCATCTATAGTGGCATTTTAAATCTGTCAGACATTACAAAAGAT c.1380
L Q D V W R I Y S G I L N L S D I T K D p.460
. . . . . . g.32197
ACACCTTTCTCACAAATAAAAGAGATTATTATTCACCAAAACTATAAAGTCTCAGAAGGG c.1440
T P F S Q I K E I I I H Q N Y K V S E G p.480
. . . . | 13 . g.33485
AATCATGATATCGCCTTGATAAAACTCCAGGCTCCTTTGAATTACACTG | AATTCCAAAAA c.1500
N H D I A L I K L Q A P L N Y T E | F Q K p.500
. . . . . . g.33545
CCAATATGCCTACCTTCCAAAGGTGACACAAGCACAATTTATACCAACTGTTGGGTAACC c.1560
P I C L P S K G D T S T I Y T N C W V T p.520
. . | 14 . . . . g.34743
GGATGGGGCTTCTCGAAGGAGAAAG | GTGAAATCCAAAATATTCTACAAAAGGTAAATATT c.1620
G W G F S K E K G | E I Q N I L Q K V N I p.540
. . . . . . g.34803
CCTTTGGTAACAAATGAAGAATGCCAGAAAAGATATCAAGATTATAAAATAACCCAACGG c.1680
P L V T N E E C Q K R Y Q D Y K I T Q R p.560
. . . . | 15 . . g.35518
ATGGTCTGTGCTGGCTATAAAGAAGGGGGAAAAGATGCTTGTAAG | GGAGATTCAGGTGGT c.1740
M V C A G Y K E G G K D A C K | G D S G G p.580
. . . . . . g.35578
CCCTTAGTTTGCAAACACAATGGAATGTGGCGTTTGGTGGGCATCACCAGCTGGGGTGAA c.1800
P L V C K H N G M W R L V G I T S W G E p.600
. . . . . . g.35638
GGCTGTGCCCGCAGGGAGCAACCTGGTGTCTACACCAAAGTCGCTGAGTACATGGACTGG c.1860
G C A R R E Q P G V Y T K V A E Y M D W p.620
. . . . . g.35695
ATTTTAGAGAAAACACAGAGCAGTGATGGAAAAGCTCAGATGCAGTCACCAGCATGA c.1917
I L E K T Q S S D G K A Q M Q S P A X p.638
. . . . . . g.35755
gaagcagtccagagtctaggcaatttttacaacctgagttcaagtcaaattctgagcctg c.*60
. . . . . . g.35815
gggggtcctcatctgcaaagcatggagagtggcatcttctttgcatcctaaggacgaaaa c.*120
. . . . . . g.35875
acacagtgcactcagagctgctgaggacaatgtctggctgaagcccgctttcagcacgcc c.*180
. . . . . . g.35935
gtaaccaggggctgacaatgcgaggtcgcaactgagatctccatgactgtgtgttgtgaa c.*240
. g.35954
ataaaatggtgaaagatca c.*259
(downstream sequence)
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