Canonical Allele Identifier: CA2744618356

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047180_94047181del , CM000663.2:g.94047180_94047181del	GRCh38
NC_000001.10:g.94512736_94512737del , CM000663.1:g.94512736_94512737del	GRCh37
NC_000001.9:g.94285324_94285325del	NCBI36
NG_009073.1:g.78969_78970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-88_2744-87del MANE Select	ENSP00000359245.3:n.2744-88_2744-87del
ENST00000649773.1:c.2522-88_2522-87del	ENSP00000496882.1:n.2522-88_2522-87del
ENST00000370225.3:c.2744-88_2744-87del	ENSP00000359245.3:n.2744-88_2744-87del
ENST00000536513.5:c.-64-7092_-64-7091del	ENSP00000439707.2:n.-64-7092_-64-7091del
NM_000350.2:c.2744-88_2744-87del	NP_000341.2:n.2744-88_2744-87del
NM_000350.3:c.2744-88_2744-87del MANE Select	NP_000341.2:n.2744-88_2744-87del