Canonical Allele Identifier: CA2634286494

Gene: FA2H

Linked Data

• gnomAD v4: 16-74713461-G-GAGGGCAGGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74713461_74713462insAGGGCAGGAC , CM000678.2:g.74713461_74713462insAGGGCAGGAC	GRCh38
NC_000016.9:g.74747359_74747360insAGGGCAGGAC , CM000678.1:g.74747359_74747360insAGGGCAGGAC	GRCh37
NC_000016.8:g.73304860_73304861insAGGGCAGGAC	NCBI36
NG_017070.1:g.66370_66371insGTCCTGCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.*728_*729insGTCCTGCCCT MANE Select	ENSP00000219368.3:n.*728_*729insGTCCTGCCCT
ENST00000219368.7:c.*728_*729insGTCCTGCCCT	ENSP00000219368.3:n.*728_*729insGTCCTGCCCT
ENST00000562145.1:n.1568_1569insGTCCTGCCCT
NM_024306.4:c.*728_*729insGTCCTGCCCT	NP_077282.3:n.*728_*729insGTCCTGCCCT
XM_011523319.1:c.*728_*729insGTCCTGCCCT	XP_011521621.1:n.*728_*729insGTCCTGCCCT
XM_011523319.2:c.*728_*729insGTCCTGCCCT	XP_011521621.1:n.*728_*729insGTCCTGCCCT
NM_024306.5:c.*728_*729insGTCCTGCCCT MANE Select	NP_077282.3:n.*728_*729insGTCCTGCCCT