Canonical Allele Identifier: CA1519889311
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205483_186205485delinsCTG , CM000666.2:g.186205483_186205485delinsCTG GRCh38
NC_000004.11:g.187126637_187126639delinsCTG , CM000666.1:g.187126637_187126639delinsCTG GRCh37
NC_000004.10:g.187363631_187363633delinsCTG NCBI36
NG_007965.1:g.18964_18966delinsCTG
NG_012095.2:g.1505_1507delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+181_1090+183delinsCTG MANE Select ENSP00000368079.4:n.1090+181_1090+183delinsCTG
ENST00000378802.4:c.1090+181_1090+183delinsCTG ENSP00000368079.4:n.1090+181_1090+183delinsCTG
ENST00000502665.1:n.325+181_325+183delinsCTG
ENST00000507209.5:n.5788+181_5788+183delinsCTG
ENST00000513354.5:n.180+181_180+183delinsCTG
NM_207352.3:c.1090+181_1090+183delinsCTG NP_997235.3:n.1090+181_1090+183delinsCTG
XM_005262935.2:c.1090+181_1090+183delinsCTG XP_005262992.1:n.1090+181_1090+183delinsCTG
XM_006714184.2:c.694+181_694+183delinsCTG XP_006714247.1:n.694+181_694+183delinsCTG
XM_005262935.4:c.1090+181_1090+183delinsCTG XP_005262992.1:n.1090+181_1090+183delinsCTG
XM_017008037.1:c.694+181_694+183delinsCTG XP_016863526.1:n.694+181_694+183delinsCTG
NM_207352.4:c.1090+181_1090+183delinsCTG MANE Select NP_997235.3:n.1090+181_1090+183delinsCTG