Canonical Allele Identifier: CA2744618314

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047115_94047118del , CM000663.2:g.94047115_94047118del	GRCh38
NC_000001.10:g.94512671_94512674del , CM000663.1:g.94512671_94512674del	GRCh37
NC_000001.9:g.94285259_94285262del	NCBI36
NG_009073.1:g.79032_79035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-25_2744-22del MANE Select	ENSP00000359245.3:n.2744-25_2744-22del
ENST00000649773.1:c.2522-25_2522-22del	ENSP00000496882.1:n.2522-25_2522-22del
ENST00000370225.3:c.2744-25_2744-22del	ENSP00000359245.3:n.2744-25_2744-22del
ENST00000536513.5:c.-64-7029_-64-7026del	ENSP00000439707.2:n.-64-7029_-64-7026del
NM_000350.2:c.2744-25_2744-22del	NP_000341.2:n.2744-25_2744-22del
NM_000350.3:c.2744-25_2744-22del MANE Select	NP_000341.2:n.2744-25_2744-22del