Canonical Allele Identifier: CA645540563

Gene: CYP4V2

Linked Data

• COSMIC: COSM6028026

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208950del , CM000666.2:g.186208950del	GRCh38
NC_000004.11:g.187130104del , CM000666.1:g.187130104del	GRCh37
NC_000004.10:g.187367098del	NCBI36
NG_007965.1:g.22431del
NG_012095.2:g.4972del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1176del MANE Select	ENSP00000368079.4:p.Pro393LeufsTer22
ENST00000378802.4:c.1176del	ENSP00000368079.4:p.Pro393LeufsTer22
ENST00000502665.1:n.411del
ENST00000507209.5:n.5874del
ENST00000513354.5:n.266del
NM_207352.3:c.1176del	NP_997235.3:p.Pro393LeufsTer22
XM_005262935.2:c.1176del	XP_005262992.1:p.Pro393LeufsTer21
XM_006714184.2:c.780del	XP_006714247.1:p.Pro261LeufsTer22
XM_005262935.4:c.1176del	XP_005262992.1:p.Pro393LeufsTer21
XM_017008037.1:c.780del	XP_016863526.1:p.Pro261LeufsTer22
NM_207352.4:c.1176del MANE Select	NP_997235.3:p.Pro393LeufsTer22