Canonical Allele Identifier: CA2744617547

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041553_94041554insA , CM000663.2:g.94041553_94041554insA	GRCh38
NC_000001.10:g.94507109_94507110insA , CM000663.1:g.94507109_94507110insA	GRCh37
NC_000001.9:g.94279697_94279698insA	NCBI36
NG_009073.1:g.84596_84597insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-152_3329-151insT MANE Select	ENSP00000359245.3:n.3329-152_3329-151insT
ENST00000370225.3:c.3329-152_3329-151insT	ENSP00000359245.3:n.3329-152_3329-151insT
ENST00000536513.5:c.-64-1465_-64-1464insT	ENSP00000439707.2:n.-64-1465_-64-1464insT
NM_000350.2:c.3329-152_3329-151insT	NP_000341.2:n.3329-152_3329-151insT
NM_000350.3:c.3329-152_3329-151insT MANE Select	NP_000341.2:n.3329-152_3329-151insT