Canonical Allele Identifier: CA2744618330

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047156_94047157insA , CM000663.2:g.94047156_94047157insA	GRCh38
NC_000001.10:g.94512712_94512713insA , CM000663.1:g.94512712_94512713insA	GRCh37
NC_000001.9:g.94285300_94285301insA	NCBI36
NG_009073.1:g.78993_78994insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-64_2744-63insT MANE Select	ENSP00000359245.3:n.2744-64_2744-63insT
ENST00000649773.1:c.2522-64_2522-63insT	ENSP00000496882.1:n.2522-64_2522-63insT
ENST00000370225.3:c.2744-64_2744-63insT	ENSP00000359245.3:n.2744-64_2744-63insT
ENST00000536513.5:c.-64-7068_-64-7067insT	ENSP00000439707.2:n.-64-7068_-64-7067insT
NM_000350.2:c.2744-64_2744-63insT	NP_000341.2:n.2744-64_2744-63insT
NM_000350.3:c.2744-64_2744-63insT MANE Select	NP_000341.2:n.2744-64_2744-63insT