Canonical Allele Identifier: CA2646649288

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94030537-T-TGAGATATGTGACTGGGACAGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030541_94030542insTATGTGACTGGGACAGAGCGAGA , CM000663.2:g.94030541_94030542insTATGTGACTGGGACAGAGCGAGA	GRCh38
NC_000001.10:g.94496097_94496098insTATGTGACTGGGACAGAGCGAGA , CM000663.1:g.94496097_94496098insTATGTGACTGGGACAGAGCGAGA	GRCh37
NC_000001.9:g.94268685_94268686insTATGTGACTGGGACAGAGCGAGA	NCBI36
NG_009073.1:g.95612_95613insGCTCTGTCCCAGTCACATATCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-12_4254-11insGCTCTGTCCCAGTCACATATCTC MANE Select	ENSP00000359245.3:n.4254-12_4254-11insGCTCTGTCCCAGTCACATATCTC...
ENST00000370225.3:c.4254-12_4254-11insGCTCTGTCCCAGTCACATATCTC	ENSP00000359245.3:n.4254-12_4254-11insGCTCTGTCCCAGTCACATATCTC...
ENST00000536513.5:c.630-12_630-11insGCTCTGTCCCAGTCACATATCTC	ENSP00000439707.2:n.630-12_630-11insGCTCTGTCCCAGTCACATATCTC
NM_000350.2:c.4254-12_4254-11insGCTCTGTCCCAGTCACATATCTC	NP_000341.2:n.4254-12_4254-11insGCTCTGTCCCAGTCACATATCTC
NM_000350.3:c.4254-12_4254-11insGCTCTGTCCCAGTCACATATCTC MANE Select	NP_000341.2:n.4254-12_4254-11insGCTCTGTCCCAGTCACATATCTC