Canonical Allele Identifier: CA2232982409
Gene: FA2H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774457_74774458delinsTG , CM000678.2:g.74774457_74774458delinsTG GRCh38
NC_000016.9:g.74808355_74808356delinsTG , CM000678.1:g.74808355_74808356delinsTG GRCh37
NC_000016.8:g.73365856_73365857delinsTG NCBI36
NG_017070.1:g.5374_5375delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.270+28_270+29delinsCA MANE Select ENSP00000219368.3:n.270+28_270+29delinsCA
ENST00000219368.7:c.270+28_270+29delinsCA ENSP00000219368.3:n.270+28_270+29delinsCA
ENST00000567683.5:c.270+28_270+29delinsCA ENSP00000455126.1:n.270+28_270+29delinsCA
NM_024306.4:c.270+28_270+29delinsCA NP_077282.3:n.270+28_270+29delinsCA
XM_011523317.1:c.270+28_270+29delinsCA XP_011521619.1:n.270+28_270+29delinsCA
XM_011523318.1:c.270+28_270+29delinsCA XP_011521620.1:n.270+28_270+29delinsCA
XM_011523317.3:c.270+28_270+29delinsCA XP_011521619.1:n.270+28_270+29delinsCA
NM_024306.5:c.270+28_270+29delinsCA MANE Select NP_077282.3:n.270+28_270+29delinsCA