Canonical Allele Identifier: CA442640295

Gene: KLKB1

Linked Data

• dbSNP Id: rs755680952
• gnomAD v2: 4-187158018-C-CA
• gnomAD v4: 4-186236864-C-CA
• COSMIC: COSM1428966 ; COSM1428967
• MyVariant Identifiers: chr4:g.187158019_187158020insA (hg19) ; chr4:g.186236865_186236866insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186236870dup , CM000666.2:g.186236870dup	GRCh38
NC_000004.11:g.187158024dup , CM000666.1:g.187158024dup	GRCh37
NC_000004.10:g.187395018dup	NCBI36
NG_012095.2:g.32892dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264690.11:c.418dup MANE Select	ENSP00000264690.6:p.Arg140LysfsTer5
ENST00000264690.10:c.418dup	ENSP00000264690.6:p.Arg140LysfsTer5
ENST00000428196.5:c.418dup	ENSP00000412366.1:p.Arg140LysfsTer5
ENST00000446598.6:c.304dup	ENSP00000415563.2:p.Arg102LysfsTer5
ENST00000511406.5:n.448dup
ENST00000511608.5:c.561dup
ENST00000513864.2:c.304dup	ENSP00000424469.2:p.Arg102LysfsTer5
NM_000892.3:c.418dup	NP_000883.2:p.Arg140LysfsTer5
XM_011531930.1:c.418dup	XP_011530232.1:p.Arg140LysfsTer5
XM_011531931.1:c.418dup	XP_011530233.1:p.Arg140LysfsTer5
XM_011531932.1:c.304dup	XP_011530234.1:p.Arg102LysfsTer5
XM_011531933.1:c.304dup	XP_011530235.1:p.Arg102LysfsTer5
XM_011531934.1:c.-220dup	XP_011530236.1:n.-220dup
NM_000892.4:c.418dup	NP_000883.2:p.Arg140LysfsTer5
NM_001318394.1:c.304dup	NP_001305323.1:p.Arg102LysfsTer5
NM_001318396.1:c.-220dup	NP_001305325.1:n.-220dup
XM_011531930.2:c.418dup	XP_011530232.1:p.Arg140LysfsTer5
XM_017008181.1:c.418dup	XP_016863670.1:p.Arg140LysfsTer5
XM_017008182.1:c.418dup	XP_016863671.1:p.Arg140LysfsTer5
XM_017008183.1:c.418dup	XP_016863672.1:p.Arg140LysfsTer5
NM_000892.5:c.418dup MANE Select	NP_000883.2:p.Arg140LysfsTer5
NM_001318394.2:c.304dup	NP_001305323.1:p.Arg102LysfsTer5
NM_001318396.2:c.-220dup	NP_001305325.1:n.-220dup