Canonical Allele Identifier: CA442640384

Gene: KLKB1

Linked Data

• dbSNP Id: rs560588447
• gnomAD v2: 4-187158050-GT-G
• COSMIC: COSM1428972 ; COSM1428973
• MyVariant Identifiers: chr4:g.187158051del (hg19) ; chr4:g.186236897del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186236903del , CM000666.2:g.186236903del	GRCh38
NC_000004.11:g.187158057del , CM000666.1:g.187158057del	GRCh37
NC_000004.10:g.187395051del	NCBI36
NG_012095.2:g.32925del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264690.11:c.451del MANE Select	ENSP00000264690.6:p.Ser151HisfsTer18
ENST00000264690.10:c.451del	ENSP00000264690.6:p.Ser151HisfsTer18
ENST00000446598.6:c.337del	ENSP00000415563.2:p.Ser113HisfsTer18
ENST00000511406.5:n.481del
ENST00000511608.5:c.594del
ENST00000513864.2:c.337del	ENSP00000424469.2:p.Ser113HisfsTer18
NM_000892.3:c.451del	NP_000883.2:p.Ser151HisfsTer18
XM_011531930.1:c.451del	XP_011530232.1:p.Ser151HisfsTer18
XM_011531931.1:c.451del	XP_011530233.1:p.Ser151HisfsTer18
XM_011531932.1:c.337del	XP_011530234.1:p.Ser113HisfsTer18
XM_011531933.1:c.337del	XP_011530235.1:p.Ser113HisfsTer18
XM_011531934.1:c.-187del	XP_011530236.1:n.-187del
NM_000892.4:c.451del	NP_000883.2:p.Ser151HisfsTer18
NM_001318394.1:c.337del	NP_001305323.1:p.Ser113HisfsTer18
NM_001318396.1:c.-187del	NP_001305325.1:n.-187del
XM_011531930.2:c.451del	XP_011530232.1:p.Ser151HisfsTer18
XM_017008181.1:c.451del	XP_016863670.1:p.Ser151HisfsTer18
XM_017008182.1:c.451del	XP_016863671.1:p.Ser151HisfsTer18
XM_017008183.1:c.451del	XP_016863672.1:p.Ser151HisfsTer18
NM_000892.5:c.451del MANE Select	NP_000883.2:p.Ser151HisfsTer18
NM_001318394.2:c.337del	NP_001305323.1:p.Ser113HisfsTer18
NM_001318396.2:c.-187del	NP_001305325.1:n.-187del