Canonical Allele Identifier: CA2672898234

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186210567-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210569del , CM000666.2:g.186210569del	GRCh38
NC_000004.11:g.187131723del , CM000666.1:g.187131723del	GRCh37
NC_000004.10:g.187368717del	NCBI36
NG_007965.1:g.24050del
NG_012095.2:g.6591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1506del (CYP4V2) MANE Select	ENSP00000368079.4:p.Gly503AspfsTer3
ENST00000378802.4:c.1506del (CYP4V2)	ENSP00000368079.4:p.Gly503AspfsTer3
ENST00000502665.1:n.741del (CYP4V2)
ENST00000507209.5:n.6204del (CYP4V2)
ENST00000511608.5:c.201+1297del (KLKB1)
ENST00000513354.5:n.596del (CYP4V2)
NM_207352.3:c.1506del (CYP4V2)	NP_997235.3:p.Gly503AspfsTer3
XM_005262935.2:c.1503del (CYP4V2)	XP_005262992.1:p.Gly502AspfsTer3
XM_006714184.2:c.1110del (CYP4V2)	XP_006714247.1:p.Gly371AspfsTer3
XM_005262935.4:c.1503del (CYP4V2)	XP_005262992.1:p.Gly502AspfsTer3
XM_017008037.1:c.1110del (CYP4V2)	XP_016863526.1:p.Gly371AspfsTer3
NM_207352.4:c.1506del (CYP4V2) MANE Select	NP_997235.3:p.Gly503AspfsTer3