Canonical Allele Identifier: CA2744618371

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047192_94047193insACAT , CM000663.2:g.94047192_94047193insACAT	GRCh38
NC_000001.10:g.94512748_94512749insACAT , CM000663.1:g.94512748_94512749insACAT	GRCh37
NC_000001.9:g.94285336_94285337insACAT	NCBI36
NG_009073.1:g.78957_78958insATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-100_2744-99insATGT MANE Select	ENSP00000359245.3:n.2744-100_2744-99insATGT
ENST00000649773.1:c.2522-100_2522-99insATGT	ENSP00000496882.1:n.2522-100_2522-99insATGT
ENST00000370225.3:c.2744-100_2744-99insATGT	ENSP00000359245.3:n.2744-100_2744-99insATGT
ENST00000536513.5:c.-64-7104_-64-7103insATGT	ENSP00000439707.2:n.-64-7104_-64-7103insATGT
NM_000350.2:c.2744-100_2744-99insATGT	NP_000341.2:n.2744-100_2744-99insATGT
NM_000350.3:c.2744-100_2744-99insATGT MANE Select	NP_000341.2:n.2744-100_2744-99insATGT