Canonical Allele Identifier: CA2744617541

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041541_94041542insT , CM000663.2:g.94041541_94041542insT	GRCh38
NC_000001.10:g.94507097_94507098insT , CM000663.1:g.94507097_94507098insT	GRCh37
NC_000001.9:g.94279685_94279686insT	NCBI36
NG_009073.1:g.84608_84609insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-140_3329-139insA MANE Select	ENSP00000359245.3:n.3329-140_3329-139insA
ENST00000370225.3:c.3329-140_3329-139insA	ENSP00000359245.3:n.3329-140_3329-139insA
ENST00000536513.5:c.-64-1453_-64-1452insA	ENSP00000439707.2:n.-64-1453_-64-1452insA
NM_000350.2:c.3329-140_3329-139insA	NP_000341.2:n.3329-140_3329-139insA
NM_000350.3:c.3329-140_3329-139insA MANE Select	NP_000341.2:n.3329-140_3329-139insA