Canonical Allele Identifier: CA2634290017

Gene: FA2H

Linked Data

• gnomAD v4: 16-74774661-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774664del , CM000678.2:g.74774664del	GRCh38
NC_000016.9:g.74808562del , CM000678.1:g.74808562del	GRCh37
NC_000016.8:g.73366063del	NCBI36
NG_017070.1:g.5170del

Transcript Alleles

HGVS	Amino-acid change
ENST00000219368.8:c.94del MANE Select	ENSP00000219368.3:p.Arg32AlafsTer?
ENST00000219368.7:c.94del	ENSP00000219368.3:p.Arg32AlafsTer?
ENST00000567683.5:c.94del	ENSP00000455126.1:p.Arg32AlafsTer?
NM_024306.4:c.94del	NP_077282.3:p.Arg32AlafsTer?
XM_011523317.1:c.94del	XP_011521619.1:p.Arg32AlafsTer?
XM_011523318.1:c.94del	XP_011521620.1:p.Arg32AlafsTer?
XM_011523317.3:c.94del	XP_011521619.1:p.Arg32AlafsTer?
NM_024306.5:c.94del MANE Select	NP_077282.3:p.Arg32AlafsTer?