Canonical Allele Identifier: CA2744617530

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041531_94041532insACA , CM000663.2:g.94041531_94041532insACA	GRCh38
NC_000001.10:g.94507087_94507088insACA , CM000663.1:g.94507087_94507088insACA	GRCh37
NC_000001.9:g.94279675_94279676insACA	NCBI36
NG_009073.1:g.84618_84619insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-130_3329-129insTGT MANE Select	ENSP00000359245.3:n.3329-130_3329-129insTGT
ENST00000370225.3:c.3329-130_3329-129insTGT	ENSP00000359245.3:n.3329-130_3329-129insTGT
ENST00000536513.5:c.-64-1443_-64-1442insTGT	ENSP00000439707.2:n.-64-1443_-64-1442insTGT
NM_000350.2:c.3329-130_3329-129insTGT	NP_000341.2:n.3329-130_3329-129insTGT
NM_000350.3:c.3329-130_3329-129insTGT MANE Select	NP_000341.2:n.3329-130_3329-129insTGT