Canonical Allele Identifier: CA2672896881

Gene: CYP4V2

Linked Data

• gnomAD v4: 4-186205231-GGTCCTTATACCTGTTGGGTTCTAACCCAGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205236_186205266del , CM000666.2:g.186205236_186205266del	GRCh38
NC_000004.11:g.187126390_187126420del , CM000666.1:g.187126390_187126420del	GRCh37
NC_000004.10:g.187363384_187363414del	NCBI36
NG_007965.1:g.18717_18747del
NG_012095.2:g.1258_1288del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1024_1054del MANE Select	ENSP00000368079.4:p.Leu342ArgfsTer21
ENST00000378802.4:c.1024_1054del	ENSP00000368079.4:p.Leu342ArgfsTer21
ENST00000502665.1:n.259_289del
ENST00000507209.5:n.5722_5752del
ENST00000513354.5:n.114_144del
NM_207352.3:c.1024_1054del	NP_997235.3:p.Leu342ArgfsTer21
XM_005262935.2:c.1024_1054del	XP_005262992.1:p.Leu342ArgfsTer21
XM_006714184.2:c.628_658del	XP_006714247.1:p.Leu210ArgfsTer21
XM_005262935.4:c.1024_1054del	XP_005262992.1:p.Leu342ArgfsTer21
XM_017008037.1:c.628_658del	XP_016863526.1:p.Leu210ArgfsTer21
NM_207352.4:c.1024_1054del MANE Select	NP_997235.3:p.Leu342ArgfsTer21