Canonical Allele Identifier: CA2232982376

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774416_74774417delinsCG , CM000678.2:g.74774416_74774417delinsCG	GRCh38
NC_000016.9:g.74808314_74808315delinsCG , CM000678.1:g.74808314_74808315delinsCG	GRCh37
NC_000016.8:g.73365815_73365816delinsCG	NCBI36
NG_017070.1:g.5415_5416delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.270+69_270+70delinsCG MANE Select	ENSP00000219368.3:n.270+69_270+70delinsCG
ENST00000219368.7:c.270+69_270+70delinsCG	ENSP00000219368.3:n.270+69_270+70delinsCG
ENST00000567683.5:c.270+69_270+70delinsCG	ENSP00000455126.1:n.270+69_270+70delinsCG
NM_024306.4:c.270+69_270+70delinsCG	NP_077282.3:n.270+69_270+70delinsCG
XM_011523317.1:c.270+69_270+70delinsCG	XP_011521619.1:n.270+69_270+70delinsCG
XM_011523318.1:c.270+69_270+70delinsCG	XP_011521620.1:n.270+69_270+70delinsCG
XM_011523317.3:c.270+69_270+70delinsCG	XP_011521619.1:n.270+69_270+70delinsCG
NM_024306.5:c.270+69_270+70delinsCG MANE Select	NP_077282.3:n.270+69_270+70delinsCG