Canonical Allele Identifier: CA2646650229

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94047232-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047234del , CM000663.2:g.94047234del	GRCh38
NC_000001.10:g.94512790del , CM000663.1:g.94512790del	GRCh37
NC_000001.9:g.94285378del	NCBI36
NG_009073.1:g.78917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-140del MANE Select	ENSP00000359245.3:n.2744-140del
ENST00000649773.1:c.2522-140del	ENSP00000496882.1:n.2522-140del
ENST00000370225.3:c.2744-140del	ENSP00000359245.3:n.2744-140del
ENST00000536513.5:c.-64-7144del	ENSP00000439707.2:n.-64-7144del
NM_000350.2:c.2744-140del	NP_000341.2:n.2744-140del
NM_000350.3:c.2744-140del MANE Select	NP_000341.2:n.2744-140del