Canonical Allele Identifier: CA2634289547

Gene: FA2H

Linked Data

• gnomAD v4: 16-74726319-GGGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726320_74726323del , CM000678.2:g.74726320_74726323del	GRCh38
NC_000016.9:g.74760218_74760221del , CM000678.1:g.74760218_74760221del	GRCh37
NC_000016.8:g.73317719_73317722del	NCBI36
NG_017070.1:g.53509_53512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.515_518del MANE Select	ENSP00000219368.3:p.Val172AlafsTer?
ENST00000219368.7:c.515_518del	ENSP00000219368.3:p.Val172AlafsTer?
ENST00000567683.5:c.364-7163_364-7160del	ENSP00000455126.1:n.364-7163_364-7160del
ENST00000569949.1:c.317_320del	ENSP00000464576.1:p.Val106AlafsTer?
NM_024306.4:c.515_518del	NP_077282.3:p.Val172AlafsTer?
XM_011523317.1:c.515_518del	XP_011521619.1:p.Val172AlafsTer?
XM_011523318.1:c.515_518del	XP_011521620.1:p.Val172AlafsTer?
XM_011523319.1:c.275_278del	XP_011521621.1:p.Val92AlafsTer?
XM_011523317.3:c.515_518del	XP_011521619.1:p.Val172AlafsTer?
XM_011523319.2:c.275_278del	XP_011521621.1:p.Val92AlafsTer?
NM_024306.5:c.515_518del MANE Select	NP_077282.3:p.Val172AlafsTer?