Canonical Allele Identifier: CA2838909644
Gene: FA2H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774556_74774557del , CM000678.2:g.74774556_74774557del GRCh38
NC_000016.9:g.74808454_74808455del , CM000678.1:g.74808454_74808455del GRCh37
NC_000016.8:g.73365955_73365956del NCBI36
NG_017070.1:g.5277_5278del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.201_202del MANE Select ENSP00000219368.3:p.His67GlnfsTer?
ENST00000219368.7:c.201_202del ENSP00000219368.3:p.His67GlnfsTer?
ENST00000567683.5:c.201_202del ENSP00000455126.1:p.His67GlnfsTer?
NM_024306.4:c.201_202del NP_077282.3:p.His67GlnfsTer?
XM_011523317.1:c.201_202del XP_011521619.1:p.His67GlnfsTer?
XM_011523318.1:c.201_202del XP_011521620.1:p.His67GlnfsTer?
XM_011523317.3:c.201_202del XP_011521619.1:p.His67GlnfsTer?
NM_024306.5:c.201_202del MANE Select NP_077282.3:p.His67GlnfsTer?