Canonical Allele Identifier: CA2764868240
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205446_186205447del , CM000666.2:g.186205446_186205447del GRCh38
NC_000004.11:g.187126600_187126601del , CM000666.1:g.187126600_187126601del GRCh37
NC_000004.10:g.187363594_187363595del NCBI36
NG_007965.1:g.18927_18928del
NG_012095.2:g.1468_1469del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+144_1090+145del MANE Select ENSP00000368079.4:n.1090+144_1090+145del
ENST00000378802.4:c.1090+144_1090+145del ENSP00000368079.4:n.1090+144_1090+145del
ENST00000502665.1:n.325+144_325+145del
ENST00000507209.5:n.5788+144_5788+145del
ENST00000513354.5:n.180+144_180+145del
NM_207352.3:c.1090+144_1090+145del NP_997235.3:n.1090+144_1090+145del
XM_005262935.2:c.1090+144_1090+145del XP_005262992.1:n.1090+144_1090+145del
XM_006714184.2:c.694+144_694+145del XP_006714247.1:n.694+144_694+145del
XM_005262935.4:c.1090+144_1090+145del XP_005262992.1:n.1090+144_1090+145del
XM_017008037.1:c.694+144_694+145del XP_016863526.1:n.694+144_694+145del
NM_207352.4:c.1090+144_1090+145del MANE Select NP_997235.3:n.1090+144_1090+145del