Canonical Allele Identifier: CA2744618370

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047191_94047192insA , CM000663.2:g.94047191_94047192insA	GRCh38
NC_000001.10:g.94512747_94512748insA , CM000663.1:g.94512747_94512748insA	GRCh37
NC_000001.9:g.94285335_94285336insA	NCBI36
NG_009073.1:g.78958_78959insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-99_2744-98insT MANE Select	ENSP00000359245.3:n.2744-99_2744-98insT
ENST00000649773.1:c.2522-99_2522-98insT	ENSP00000496882.1:n.2522-99_2522-98insT
ENST00000370225.3:c.2744-99_2744-98insT	ENSP00000359245.3:n.2744-99_2744-98insT
ENST00000536513.5:c.-64-7103_-64-7102insT	ENSP00000439707.2:n.-64-7103_-64-7102insT
NM_000350.2:c.2744-99_2744-98insT	NP_000341.2:n.2744-99_2744-98insT
NM_000350.3:c.2744-99_2744-98insT MANE Select	NP_000341.2:n.2744-99_2744-98insT