Canonical Allele Identifier: CA2232982553
Gene: FA2H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774556_74774559delinsTGCG , CM000678.2:g.74774556_74774559delinsTGCG GRCh38
NC_000016.9:g.74808454_74808457delinsTGCG , CM000678.1:g.74808454_74808457delinsTGCG GRCh37
NC_000016.8:g.73365955_73365958delinsTGCG NCBI36
NG_017070.1:g.5273_5276delinsCGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.197_200delinsCGCA MANE Select ENSP00000219368.3:p.Pro66=
ENST00000219368.7:c.197_200delinsCGCA ENSP00000219368.3:p.Pro66=
ENST00000567683.5:c.197_200delinsCGCA ENSP00000455126.1:p.Pro66=
NM_024306.4:c.197_200delinsCGCA NP_077282.3:p.Pro66=
XM_011523317.1:c.197_200delinsCGCA XP_011521619.1:p.Pro66=
XM_011523318.1:c.197_200delinsCGCA XP_011521620.1:p.Pro66=
XM_011523317.3:c.197_200delinsCGCA XP_011521619.1:p.Pro66=
NM_024306.5:c.197_200delinsCGCA MANE Select NP_077282.3:p.Pro66=