Canonical Allele Identifier: CA2744618347

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047170_94047171insA , CM000663.2:g.94047170_94047171insA	GRCh38
NC_000001.10:g.94512726_94512727insA , CM000663.1:g.94512726_94512727insA	GRCh37
NC_000001.9:g.94285314_94285315insA	NCBI36
NG_009073.1:g.78979_78980insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-78_2744-77insT MANE Select	ENSP00000359245.3:n.2744-78_2744-77insT
ENST00000649773.1:c.2522-78_2522-77insT	ENSP00000496882.1:n.2522-78_2522-77insT
ENST00000370225.3:c.2744-78_2744-77insT	ENSP00000359245.3:n.2744-78_2744-77insT
ENST00000536513.5:c.-64-7082_-64-7081insT	ENSP00000439707.2:n.-64-7082_-64-7081insT
NM_000350.2:c.2744-78_2744-77insT	NP_000341.2:n.2744-78_2744-77insT
NM_000350.3:c.2744-78_2744-77insT MANE Select	NP_000341.2:n.2744-78_2744-77insT