Canonical Allele Identifier: CA2672898195

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186210532-TAGAATCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210534_186210540del , CM000666.2:g.186210534_186210540del	GRCh38
NC_000004.11:g.187131688_187131694del , CM000666.1:g.187131688_187131694del	GRCh37
NC_000004.10:g.187368682_187368688del	NCBI36
NG_007965.1:g.24015_24021del
NG_012095.2:g.6556_6562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1471_1477del (CYP4V2) MANE Select	ENSP00000368079.4:p.Glu491ThrfsTer9
ENST00000378802.4:c.1471_1477del (CYP4V2)	ENSP00000368079.4:p.Glu491ThrfsTer9
ENST00000502665.1:n.706_712del (CYP4V2)
ENST00000507209.5:n.6169_6175del (CYP4V2)
ENST00000511608.5:c.201+1262_201+1268del (KLKB1)
ENST00000513354.5:n.561_567del (CYP4V2)
NM_207352.3:c.1471_1477del (CYP4V2)	NP_997235.3:p.Glu491ThrfsTer9
XM_005262935.2:c.1468_1474del (CYP4V2)	XP_005262992.1:p.Glu490ThrfsTer9
XM_006714184.2:c.1075_1081del (CYP4V2)	XP_006714247.1:p.Glu359ThrfsTer9
XM_005262935.4:c.1468_1474del (CYP4V2)	XP_005262992.1:p.Glu490ThrfsTer9
XM_017008037.1:c.1075_1081del (CYP4V2)	XP_016863526.1:p.Glu359ThrfsTer9
NM_207352.4:c.1471_1477del (CYP4V2) MANE Select	NP_997235.3:p.Glu491ThrfsTer9