Canonical Allele Identifier: CA2744618318

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047132_94047138del , CM000663.2:g.94047132_94047138del	GRCh38
NC_000001.10:g.94512688_94512694del , CM000663.1:g.94512688_94512694del	GRCh37
NC_000001.9:g.94285276_94285282del	NCBI36
NG_009073.1:g.79012_79018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-45_2744-39del MANE Select	ENSP00000359245.3:n.2744-45_2744-39del
ENST00000649773.1:c.2522-45_2522-39del	ENSP00000496882.1:n.2522-45_2522-39del
ENST00000370225.3:c.2744-45_2744-39del	ENSP00000359245.3:n.2744-45_2744-39del
ENST00000536513.5:c.-64-7049_-64-7043del	ENSP00000439707.2:n.-64-7049_-64-7043del
NM_000350.2:c.2744-45_2744-39del	NP_000341.2:n.2744-45_2744-39del
NM_000350.3:c.2744-45_2744-39del MANE Select	NP_000341.2:n.2744-45_2744-39del