Canonical Allele Identifier: CA913103784

Gene: KLKB1

Linked Data

• gnomAD v4: 4-186257287-GA-G
• MyVariant Identifiers: chr4:g.187178442del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186257291del , CM000666.2:g.186257291del	GRCh38
NC_000004.11:g.187178445del , CM000666.1:g.187178445del	GRCh37
NC_000004.10:g.187415439del	NCBI36
NG_012095.2:g.53313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264690.11:c.1651del MANE Select	ENSP00000264690.6:p.Arg551AspfsTer7
ENST00000264690.10:c.1651del	ENSP00000264690.6:p.Arg551AspfsTer7
ENST00000511406.5:n.1712del
ENST00000511608.5:c.1794del
ENST00000513864.2:c.1472-730del	ENSP00000424469.2:n.1472-730del
NM_000892.3:c.1651del	NP_000883.2:p.Arg551AspfsTer7
XM_011531930.1:c.1684del	XP_011530232.1:p.Arg562AspfsTer7
XM_011531931.1:c.1684del	XP_011530233.1:p.Arg562AspfsTer7
XM_011531932.1:c.1570del	XP_011530234.1:p.Arg524AspfsTer7
XM_011531933.1:c.1570del	XP_011530235.1:p.Arg524AspfsTer7
XM_011531934.1:c.1045del	XP_011530236.1:p.Arg349AspfsTer7
NM_000892.4:c.1651del	NP_000883.2:p.Arg551AspfsTer7
NM_001318394.1:c.1472-730del	NP_001305323.1:n.1472-730del
NM_001318396.1:c.1045del	NP_001305325.1:p.Arg349AspfsTer7
XM_011531930.2:c.1684del	XP_011530232.1:p.Arg562AspfsTer7
XM_017008181.1:c.1684del	XP_016863670.1:p.Arg562AspfsTer7
XM_017008182.1:c.1619-730del	XP_016863671.1:n.1619-730del
XM_017008183.1:c.1586-730del	XP_016863672.1:n.1586-730del
XM_017008184.1:c.1045del	XP_016863673.1:p.Arg349AspfsTer7
NM_000892.5:c.1651del MANE Select	NP_000883.2:p.Arg551AspfsTer7
NM_001318394.2:c.1472-730del	NP_001305323.1:n.1472-730del
NM_001318396.2:c.1045del	NP_001305325.1:p.Arg349AspfsTer7