Canonical Allele Identifier: CA2764868308
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199041_186199042insAAAAA , CM000666.2:g.186199041_186199042insAAAAA GRCh38
NC_000004.11:g.187120195_187120196insAAAAA , CM000666.1:g.187120195_187120196insAAAAA GRCh37
NC_000004.10:g.187357189_187357190insAAAAA NCBI36
NG_007965.1:g.12522_12523insAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.759_760insAAAAA MANE Select ENSP00000368079.4:p.His254LysfsTer25
ENST00000378802.4:c.759_760insAAAAA ENSP00000368079.4:p.His254LysfsTer25
ENST00000507209.5:n.1600_1601insAAAAA
NM_207352.3:c.759_760insAAAAA NP_997235.3:p.His254LysfsTer25
XM_005262935.2:c.759_760insAAAAA XP_005262992.1:p.His254LysfsTer25
XM_006714184.2:c.363_364insAAAAA XP_006714247.1:p.His122LysfsTer25
XM_005262935.4:c.759_760insAAAAA XP_005262992.1:p.His254LysfsTer25
XM_017008037.1:c.363_364insAAAAA XP_016863526.1:p.His122LysfsTer25
NM_207352.4:c.759_760insAAAAA MANE Select NP_997235.3:p.His254LysfsTer25