Canonical Allele Identifier: CA2764868310

Gene: CYP4V2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186199041_186199042insAAAAAAA , CM000666.2:g.186199041_186199042insAAAAAAA	GRCh38
NC_000004.11:g.187120195_187120196insAAAAAAA , CM000666.1:g.187120195_187120196insAAAAAAA	GRCh37
NC_000004.10:g.187357189_187357190insAAAAAAA	NCBI36
NG_007965.1:g.12522_12523insAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.759_760insAAAAAAA MANE Select	ENSP00000368079.4:p.His254LysfsTer20
ENST00000378802.4:c.759_760insAAAAAAA	ENSP00000368079.4:p.His254LysfsTer20
ENST00000507209.5:n.1600_1601insAAAAAAA
NM_207352.3:c.759_760insAAAAAAA	NP_997235.3:p.His254LysfsTer20
XM_005262935.2:c.759_760insAAAAAAA	XP_005262992.1:p.His254LysfsTer20
XM_006714184.2:c.363_364insAAAAAAA	XP_006714247.1:p.His122LysfsTer20
XM_005262935.4:c.759_760insAAAAAAA	XP_005262992.1:p.His254LysfsTer20
XM_017008037.1:c.363_364insAAAAAAA	XP_016863526.1:p.His122LysfsTer20
NM_207352.4:c.759_760insAAAAAAA MANE Select	NP_997235.3:p.His254LysfsTer20