Canonical Allele Identifier: CA2634289821

Gene: FA2H

Linked Data

• gnomAD v4: 16-74774356-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774359del , CM000678.2:g.74774359del	GRCh38
NC_000016.9:g.74808257del , CM000678.1:g.74808257del	GRCh37
NC_000016.8:g.73365758del	NCBI36
NG_017070.1:g.5475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.270+129del MANE Select	ENSP00000219368.3:n.270+129del
ENST00000219368.7:c.270+129del	ENSP00000219368.3:n.270+129del
ENST00000567683.5:c.270+129del	ENSP00000455126.1:n.270+129del
NM_024306.4:c.270+129del	NP_077282.3:n.270+129del
XM_011523317.1:c.270+129del	XP_011521619.1:n.270+129del
XM_011523318.1:c.270+129del	XP_011521620.1:n.270+129del
XM_011523317.3:c.270+129del	XP_011521619.1:n.270+129del
NM_024306.5:c.270+129del MANE Select	NP_077282.3:n.270+129del