Canonical Allele Identifier: CA645540549

Gene: CYP4V2 KLKB1

Linked Data

• COSMIC: COSM6469466

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210537_186210539del , CM000666.2:g.186210537_186210539del	GRCh38
NC_000004.11:g.187131691_187131693del , CM000666.1:g.187131691_187131693del	GRCh37
NC_000004.10:g.187368685_187368687del	NCBI36
NG_007965.1:g.24018_24020del
NG_012095.2:g.6559_6561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1474_1476del (CYP4V2) MANE Select	ENSP00000368079.4:p.Ser492del
ENST00000378802.4:c.1474_1476del (CYP4V2)	ENSP00000368079.4:p.Ser492del
ENST00000502665.1:n.709_711del (CYP4V2)
ENST00000507209.5:n.6172_6174del (CYP4V2)
ENST00000511608.5:c.201+1265_201+1267del (KLKB1)
ENST00000513354.5:n.564_566del (CYP4V2)
NM_207352.3:c.1474_1476del (CYP4V2)	NP_997235.3:p.Ser492del
XM_005262935.2:c.1471_1473del (CYP4V2)	XP_005262992.1:p.Ser491del
XM_006714184.2:c.1078_1080del (CYP4V2)	XP_006714247.1:p.Ser360del
XM_005262935.4:c.1471_1473del (CYP4V2)	XP_005262992.1:p.Ser491del
XM_017008037.1:c.1078_1080del (CYP4V2)	XP_016863526.1:p.Ser360del
NM_207352.4:c.1474_1476del (CYP4V2) MANE Select	NP_997235.3:p.Ser492del