Canonical Allele Identifier: CA2744618386

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047226_94047227del , CM000663.2:g.94047226_94047227del	GRCh38
NC_000001.10:g.94512782_94512783del , CM000663.1:g.94512782_94512783del	GRCh37
NC_000001.9:g.94285370_94285371del	NCBI36
NG_009073.1:g.78923_78924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-134_2744-133del MANE Select	ENSP00000359245.3:n.2744-134_2744-133del
ENST00000649773.1:c.2522-134_2522-133del	ENSP00000496882.1:n.2522-134_2522-133del
ENST00000370225.3:c.2744-134_2744-133del	ENSP00000359245.3:n.2744-134_2744-133del
ENST00000536513.5:c.-64-7138_-64-7137del	ENSP00000439707.2:n.-64-7138_-64-7137del
NM_000350.2:c.2744-134_2744-133del	NP_000341.2:n.2744-134_2744-133del
NM_000350.3:c.2744-134_2744-133del MANE Select	NP_000341.2:n.2744-134_2744-133del