Canonical Allele Identifier: CA2744621310

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111771_94111772insAG , CM000663.2:g.94111771_94111772insAG	GRCh38
NC_000001.10:g.94577327_94577328insAG , CM000663.1:g.94577327_94577328insAG	GRCh37
NC_000001.9:g.94349915_94349916insAG	NCBI36
NG_009073.1:g.14378_14379insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-193_161-192insCT MANE Select	ENSP00000359245.3:n.161-193_161-192insCT
ENST00000649773.1:c.161-193_161-192insCT	ENSP00000496882.1:n.161-193_161-192insCT
ENST00000370225.3:c.161-193_161-192insCT	ENSP00000359245.3:n.161-193_161-192insCT
NM_000350.2:c.161-193_161-192insCT	NP_000341.2:n.161-193_161-192insCT
NM_000350.3:c.161-193_161-192insCT MANE Select	NP_000341.2:n.161-193_161-192insCT