Canonical Allele Identifier: CA2744616571

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030635_94030636insACA , CM000663.2:g.94030635_94030636insACA	GRCh38
NC_000001.10:g.94496191_94496192insACA , CM000663.1:g.94496191_94496192insACA	GRCh37
NC_000001.9:g.94268779_94268780insACA	NCBI36
NG_009073.1:g.95514_95515insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-110_4254-109insTGT MANE Select	ENSP00000359245.3:n.4254-110_4254-109insTGT
ENST00000370225.3:c.4254-110_4254-109insTGT	ENSP00000359245.3:n.4254-110_4254-109insTGT
ENST00000536513.5:c.630-110_630-109insTGT	ENSP00000439707.2:n.630-110_630-109insTGT
NM_000350.2:c.4254-110_4254-109insTGT	NP_000341.2:n.4254-110_4254-109insTGT
NM_000350.3:c.4254-110_4254-109insTGT MANE Select	NP_000341.2:n.4254-110_4254-109insTGT