Canonical Allele Identifier: CA2646649334

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94030634-A-AGCATTCGGTGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030634_94030635insGCATTCGGTGCCT , CM000663.2:g.94030634_94030635insGCATTCGGTGCCT	GRCh38
NC_000001.10:g.94496190_94496191insGCATTCGGTGCCT , CM000663.1:g.94496190_94496191insGCATTCGGTGCCT	GRCh37
NC_000001.9:g.94268778_94268779insGCATTCGGTGCCT	NCBI36
NG_009073.1:g.95515_95516insAGGCACCGAATGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-109_4254-108insAGGCACCGAATGC MANE Select	ENSP00000359245.3:n.4254-109_4254-108insAGGCACCGAATGC
ENST00000370225.3:c.4254-109_4254-108insAGGCACCGAATGC	ENSP00000359245.3:n.4254-109_4254-108insAGGCACCGAATGC
ENST00000536513.5:c.630-109_630-108insAGGCACCGAATGC	ENSP00000439707.2:n.630-109_630-108insAGGCACCGAATGC
NM_000350.2:c.4254-109_4254-108insAGGCACCGAATGC	NP_000341.2:n.4254-109_4254-108insAGGCACCGAATGC
NM_000350.3:c.4254-109_4254-108insAGGCACCGAATGC MANE Select	NP_000341.2:n.4254-109_4254-108insAGGCACCGAATGC