Canonical Allele Identifier: CA2232982288

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774323_74774329delinsCGACAGT , CM000678.2:g.74774323_74774329delinsCGACAGT	GRCh38
NC_000016.9:g.74808221_74808227delinsCGACAGT , CM000678.1:g.74808221_74808227delinsCGACAGT	GRCh37
NC_000016.8:g.73365722_73365728delinsCGACAGT	NCBI36
NG_017070.1:g.5503_5509delinsACTGTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.270+157_270+163delinsACTGTCG MANE Select	ENSP00000219368.3:n.270+157_270+163delinsACTGTCG
ENST00000219368.7:c.270+157_270+163delinsACTGTCG	ENSP00000219368.3:n.270+157_270+163delinsACTGTCG
ENST00000567683.5:c.270+157_270+163delinsACTGTCG	ENSP00000455126.1:n.270+157_270+163delinsACTGTCG
NM_024306.4:c.270+157_270+163delinsACTGTCG	NP_077282.3:n.270+157_270+163delinsACTGTCG
XM_011523317.1:c.270+157_270+163delinsACTGTCG	XP_011521619.1:n.270+157_270+163delinsACTGTCG
XM_011523318.1:c.270+157_270+163delinsACTGTCG	XP_011521620.1:n.270+157_270+163delinsACTGTCG
XM_011523317.3:c.270+157_270+163delinsACTGTCG	XP_011521619.1:n.270+157_270+163delinsACTGTCG
NM_024306.5:c.270+157_270+163delinsACTGTCG MANE Select	NP_077282.3:n.270+157_270+163delinsACTGTCG