Canonical Allele Identifier: CA2232982290
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1962966831

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774327_74774332del , CM000678.2:g.74774327_74774332del GRCh38
NC_000016.9:g.74808225_74808230del , CM000678.1:g.74808225_74808230del GRCh37
NC_000016.8:g.73365726_73365731del NCBI36
NG_017070.1:g.5503_5508del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.270+157_270+162del MANE Select ENSP00000219368.3:n.270+157_270+162del
ENST00000219368.7:c.270+157_270+162del ENSP00000219368.3:n.270+157_270+162del
ENST00000567683.5:c.270+157_270+162del ENSP00000455126.1:n.270+157_270+162del
NM_024306.4:c.270+157_270+162del NP_077282.3:n.270+157_270+162del
XM_011523317.1:c.270+157_270+162del XP_011521619.1:n.270+157_270+162del
XM_011523318.1:c.270+157_270+162del XP_011521620.1:n.270+157_270+162del
XM_011523317.3:c.270+157_270+162del XP_011521619.1:n.270+157_270+162del
NM_024306.5:c.270+157_270+162del MANE Select NP_077282.3:n.270+157_270+162del