Canonical Allele Identifier: CA2232921829

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74713325_74713329delinsAGGAG , CM000678.2:g.74713325_74713329delinsAGGAG	GRCh38
NC_000016.9:g.74747223_74747227delinsAGGAG , CM000678.1:g.74747223_74747227delinsAGGAG	GRCh37
NC_000016.8:g.73304724_73304728delinsAGGAG	NCBI36
NG_017070.1:g.66503_66507delinsCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.*861_*865delinsCTCCT MANE Select	ENSP00000219368.3:n.*861_*865delinsCTCCT
ENST00000219368.7:c.*861_*865delinsCTCCT	ENSP00000219368.3:n.*861_*865delinsCTCCT
ENST00000562145.1:n.1701_1705delinsCTCCT
NM_024306.4:c.*861_*865delinsCTCCT	NP_077282.3:n.*861_*865delinsCTCCT
XM_011523319.1:c.*861_*865delinsCTCCT	XP_011521621.1:n.*861_*865delinsCTCCT
XM_011523319.2:c.*861_*865delinsCTCCT	XP_011521621.1:n.*861_*865delinsCTCCT
NM_024306.5:c.*861_*865delinsCTCCT MANE Select	NP_077282.3:n.*861_*865delinsCTCCT