Canonical Allele Identifier: CA2744619320

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062846_94062847insC , CM000663.2:g.94062846_94062847insC	GRCh38
NC_000001.10:g.94528402_94528403insC , CM000663.1:g.94528402_94528403insC	GRCh37
NC_000001.9:g.94300990_94300991insC	NCBI36
NG_009073.1:g.63303_63304insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-94_1761-93insG MANE Select	ENSP00000359245.3:n.1761-94_1761-93insG
ENST00000649773.1:c.1761-94_1761-93insG	ENSP00000496882.1:n.1761-94_1761-93insG
ENST00000370225.3:c.1761-94_1761-93insG	ENSP00000359245.3:n.1761-94_1761-93insG
ENST00000536513.5:c.-65+327_-65+328insG	ENSP00000439707.2:n.-65+327_-65+328insG
NM_000350.2:c.1761-94_1761-93insG	NP_000341.2:n.1761-94_1761-93insG
NM_000350.3:c.1761-94_1761-93insG MANE Select	NP_000341.2:n.1761-94_1761-93insG