Canonical Allele Identifier: CA2764868248
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205461_186205462insAGA , CM000666.2:g.186205461_186205462insAGA GRCh38
NC_000004.11:g.187126615_187126616insAGA , CM000666.1:g.187126615_187126616insAGA GRCh37
NC_000004.10:g.187363609_187363610insAGA NCBI36
NG_007965.1:g.18942_18943insAGA
NG_012095.2:g.1483_1484insAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+159_1090+160insAGA MANE Select ENSP00000368079.4:n.1090+159_1090+160insAGA
ENST00000378802.4:c.1090+159_1090+160insAGA ENSP00000368079.4:n.1090+159_1090+160insAGA
ENST00000502665.1:n.325+159_325+160insAGA
ENST00000507209.5:n.5788+159_5788+160insAGA
ENST00000513354.5:n.180+159_180+160insAGA
NM_207352.3:c.1090+159_1090+160insAGA NP_997235.3:n.1090+159_1090+160insAGA
XM_005262935.2:c.1090+159_1090+160insAGA XP_005262992.1:n.1090+159_1090+160insAGA
XM_006714184.2:c.694+159_694+160insAGA XP_006714247.1:n.694+159_694+160insAGA
XM_005262935.4:c.1090+159_1090+160insAGA XP_005262992.1:n.1090+159_1090+160insAGA
XM_017008037.1:c.694+159_694+160insAGA XP_016863526.1:n.694+159_694+160insAGA
NM_207352.4:c.1090+159_1090+160insAGA MANE Select NP_997235.3:n.1090+159_1090+160insAGA