Canonical Allele Identifier: CA2646650202

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94047192-CTGCCCCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047195_94047202del , CM000663.2:g.94047195_94047202del	GRCh38
NC_000001.10:g.94512751_94512758del , CM000663.1:g.94512751_94512758del	GRCh37
NC_000001.9:g.94285339_94285346del	NCBI36
NG_009073.1:g.78950_78957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-107_2744-100del MANE Select	ENSP00000359245.3:n.2744-107_2744-100del
ENST00000649773.1:c.2522-107_2522-100del	ENSP00000496882.1:n.2522-107_2522-100del
ENST00000370225.3:c.2744-107_2744-100del	ENSP00000359245.3:n.2744-107_2744-100del
ENST00000536513.5:c.-64-7111_-64-7104del	ENSP00000439707.2:n.-64-7111_-64-7104del
NM_000350.2:c.2744-107_2744-100del	NP_000341.2:n.2744-107_2744-100del
NM_000350.3:c.2744-107_2744-100del MANE Select	NP_000341.2:n.2744-107_2744-100del