Canonical Allele Identifier: CA2672900217

Gene: KLKB1

Linked Data

• gnomAD v4: 4-186257197-CTCTGAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186257199_186257205del , CM000666.2:g.186257199_186257205del	GRCh38
NC_000004.11:g.187178353_187178359del , CM000666.1:g.187178353_187178359del	GRCh37
NC_000004.10:g.187415347_187415353del	NCBI36
NG_012095.2:g.53221_53227del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264690.11:c.1586-27_1586-21del MANE Select	ENSP00000264690.6:n.1586-27_1586-21del
ENST00000264690.10:c.1586-27_1586-21del	ENSP00000264690.6:n.1586-27_1586-21del
ENST00000511406.5:n.1647-27_1647-21del
ENST00000511608.5:c.1729-27_1729-21del
ENST00000513864.2:c.1472-822_1472-816del	ENSP00000424469.2:n.1472-822_1472-816del
NM_000892.3:c.1586-27_1586-21del	NP_000883.2:n.1586-27_1586-21del
XM_011531930.1:c.1619-27_1619-21del	XP_011530232.1:n.1619-27_1619-21del
XM_011531931.1:c.1619-27_1619-21del	XP_011530233.1:n.1619-27_1619-21del
XM_011531932.1:c.1505-27_1505-21del	XP_011530234.1:n.1505-27_1505-21del
XM_011531933.1:c.1505-27_1505-21del	XP_011530235.1:n.1505-27_1505-21del
XM_011531934.1:c.980-27_980-21del	XP_011530236.1:n.980-27_980-21del
NM_000892.4:c.1586-27_1586-21del	NP_000883.2:n.1586-27_1586-21del
NM_001318394.1:c.1472-822_1472-816del	NP_001305323.1:n.1472-822_1472-816del
NM_001318396.1:c.980-27_980-21del	NP_001305325.1:n.980-27_980-21del
XM_011531930.2:c.1619-27_1619-21del	XP_011530232.1:n.1619-27_1619-21del
XM_017008181.1:c.1619-27_1619-21del	XP_016863670.1:n.1619-27_1619-21del
XM_017008182.1:c.1619-822_1619-816del	XP_016863671.1:n.1619-822_1619-816del
XM_017008183.1:c.1586-822_1586-816del	XP_016863672.1:n.1586-822_1586-816del
XM_017008184.1:c.980-27_980-21del	XP_016863673.1:n.980-27_980-21del
NM_000892.5:c.1586-27_1586-21del MANE Select	NP_000883.2:n.1586-27_1586-21del
NM_001318394.2:c.1472-822_1472-816del	NP_001305323.1:n.1472-822_1472-816del
NM_001318396.2:c.980-27_980-21del	NP_001305325.1:n.980-27_980-21del