Canonical Allele Identifier: CA2646650175

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94047152-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047155_94047156del , CM000663.2:g.94047155_94047156del	GRCh38
NC_000001.10:g.94512711_94512712del , CM000663.1:g.94512711_94512712del	GRCh37
NC_000001.9:g.94285299_94285300del	NCBI36
NG_009073.1:g.78996_78997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-61_2744-60del MANE Select	ENSP00000359245.3:n.2744-61_2744-60del
ENST00000649773.1:c.2522-61_2522-60del	ENSP00000496882.1:n.2522-61_2522-60del
ENST00000370225.3:c.2744-61_2744-60del	ENSP00000359245.3:n.2744-61_2744-60del
ENST00000536513.5:c.-64-7065_-64-7064del	ENSP00000439707.2:n.-64-7065_-64-7064del
NM_000350.2:c.2744-61_2744-60del	NP_000341.2:n.2744-61_2744-60del
NM_000350.3:c.2744-61_2744-60del MANE Select	NP_000341.2:n.2744-61_2744-60del