Canonical Allele Identifier: CA2232982548

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774553_74774556delinsCTGT , CM000678.2:g.74774553_74774556delinsCTGT	GRCh38
NC_000016.9:g.74808451_74808454delinsCTGT , CM000678.1:g.74808451_74808454delinsCTGT	GRCh37
NC_000016.8:g.73365952_73365955delinsCTGT	NCBI36
NG_017070.1:g.5276_5279delinsACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.200_203delinsACAG MANE Select	ENSP00000219368.3:p.His67=
ENST00000219368.7:c.200_203delinsACAG	ENSP00000219368.3:p.His67=
ENST00000567683.5:c.200_203delinsACAG	ENSP00000455126.1:p.His67=
NM_024306.4:c.200_203delinsACAG	NP_077282.3:p.His67=
XM_011523317.1:c.200_203delinsACAG	XP_011521619.1:p.His67=
XM_011523318.1:c.200_203delinsACAG	XP_011521620.1:p.His67=
XM_011523317.3:c.200_203delinsACAG	XP_011521619.1:p.His67=
NM_024306.5:c.200_203delinsACAG MANE Select	NP_077282.3:p.His67=