Canonical Allele Identifier: CA2744619115

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060822_94060823insA , CM000663.2:g.94060822_94060823insA	GRCh38
NC_000001.10:g.94526378_94526379insA , CM000663.1:g.94526378_94526379insA	GRCh37
NC_000001.9:g.94298966_94298967insA	NCBI36
NG_009073.1:g.65327_65328insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-64_1938-63insT MANE Select	ENSP00000359245.3:n.1938-64_1938-63insT
ENST00000649773.1:c.1938-64_1938-63insT	ENSP00000496882.1:n.1938-64_1938-63insT
ENST00000370225.3:c.1938-64_1938-63insT	ENSP00000359245.3:n.1938-64_1938-63insT
ENST00000472033.1:n.58-64_58-63insT
ENST00000536513.5:c.-65+2351_-65+2352insT	ENSP00000439707.2:n.-65+2351_-65+2352insT
NM_000350.2:c.1938-64_1938-63insT	NP_000341.2:n.1938-64_1938-63insT
NM_000350.3:c.1938-64_1938-63insT MANE Select	NP_000341.2:n.1938-64_1938-63insT