Canonical Allele Identifier: CA2744615617

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021470_94021471insA , CM000663.2:g.94021470_94021471insA	GRCh38
NC_000001.10:g.94487026_94487027insA , CM000663.1:g.94487026_94487027insA	GRCh37
NC_000001.9:g.94259614_94259615insA	NCBI36
NG_009073.1:g.104679_104680insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-62_4849-61insT MANE Select	ENSP00000359245.3:n.4849-62_4849-61insT
ENST00000370225.3:c.4849-62_4849-61insT	ENSP00000359245.3:n.4849-62_4849-61insT
ENST00000460514.1:n.343-62_343-61insT
ENST00000536513.5:c.1225-62_1225-61insT	ENSP00000439707.2:n.1225-62_1225-61insT
NM_000350.2:c.4849-62_4849-61insT	NP_000341.2:n.4849-62_4849-61insT
NM_000350.3:c.4849-62_4849-61insT MANE Select	NP_000341.2:n.4849-62_4849-61insT