Canonical Allele Identifier: CA8170608

Gene: FA2H

Linked Data

• dbSNP Id: rs774904489
• ExAC: 16:74808355 TG / T
• gnomAD v2: 16-74808355-TG-T
• gnomAD v4: 16-74774457-TG-T
• MyVariant Identifiers: chr16:g.74808356del (hg19) ; chr16:g.74774458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774461del , CM000678.2:g.74774461del	GRCh38
NC_000016.9:g.74808359del , CM000678.1:g.74808359del	GRCh37
NC_000016.8:g.73365860del	NCBI36
NG_017070.1:g.5374del

Transcript Alleles

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