Canonical Allele Identifier: CA2744618363

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047183_94047188del , CM000663.2:g.94047183_94047188del	GRCh38
NC_000001.10:g.94512739_94512744del , CM000663.1:g.94512739_94512744del	GRCh37
NC_000001.9:g.94285327_94285332del	NCBI36
NG_009073.1:g.78962_78967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-95_2744-90del MANE Select	ENSP00000359245.3:n.2744-95_2744-90del
ENST00000649773.1:c.2522-95_2522-90del	ENSP00000496882.1:n.2522-95_2522-90del
ENST00000370225.3:c.2744-95_2744-90del	ENSP00000359245.3:n.2744-95_2744-90del
ENST00000536513.5:c.-64-7099_-64-7094del	ENSP00000439707.2:n.-64-7099_-64-7094del
NM_000350.2:c.2744-95_2744-90del	NP_000341.2:n.2744-95_2744-90del
NM_000350.3:c.2744-95_2744-90del MANE Select	NP_000341.2:n.2744-95_2744-90del