Canonical Allele Identifier: CA1071991816

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1736453031
• gnomAD v3: 4-186204965-CACCAGCGTGCA-C
• gnomAD v4: 4-186204965-CACCAGCGTGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186204968_186204978del , CM000666.2:g.186204968_186204978del	GRCh38
NC_000004.11:g.187126122_187126132del , CM000666.1:g.187126122_187126132del	GRCh37
NC_000004.10:g.187363116_187363126del	NCBI36
NG_007965.1:g.18449_18459del
NG_012095.2:g.990_1000del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.988-232_988-222del MANE Select	ENSP00000368079.4:n.988-232_988-222del
ENST00000378802.4:c.988-232_988-222del	ENSP00000368079.4:n.988-232_988-222del
ENST00000502665.1:n.132_142del
ENST00000507209.5:n.5454_5464del
ENST00000513354.5:n.78-232_78-222del
NM_207352.3:c.988-232_988-222del	NP_997235.3:n.988-232_988-222del
XM_005262935.2:c.988-232_988-222del	XP_005262992.1:n.988-232_988-222del
XM_006714184.2:c.592-232_592-222del	XP_006714247.1:n.592-232_592-222del
XM_005262935.4:c.988-232_988-222del	XP_005262992.1:n.988-232_988-222del
XM_017008037.1:c.592-232_592-222del	XP_016863526.1:n.592-232_592-222del
NM_207352.4:c.988-232_988-222del MANE Select	NP_997235.3:n.988-232_988-222del