Canonical Allele Identifier: CA283765868
Community Standard Title: NM_024306.5(FA2H):c.507-64del
Gene: FA2H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74726405del , CM000678.2:g.74726405del GRCh38
NC_000016.9:g.74760303del , CM000678.1:g.74760303del GRCh37
NC_000016.8:g.73317804del NCBI36
NG_017070.1:g.53437del

Transcript Alleles

HGVS Amino-acid Change
NM_024306.5:c.507-64del MANE Select NP_077282.3:n.507-64del
ENST00000219368.8:c.507-64del MANE Select ENSP00000219368.3:n.507-64del
NM_024306.4:c.507-64del NP_077282.3:n.507-64del
ENST00000219368.7:c.507-64del ENSP00000219368.3:n.507-64del
ENST00000567683.5:c.364-7235del ENSP00000455126.1:n.364-7235del
ENST00000569949.1:c.309-64del ENSP00000464576.1:n.309-64del
XM_011523317.1:c.507-64del XP_011521619.1:n.507-64del
XM_011523317.3:c.507-64del XP_011521619.1:n.507-64del
XM_011523318.1:c.507-64del XP_011521620.1:n.507-64del
XM_011523319.1:c.267-64del XP_011521621.1:n.267-64del
XM_011523319.2:c.267-64del XP_011521621.1:n.267-64del