Canonical Allele Identifier: CA2744619269
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062798_94062799insA , CM000663.2:g.94062798_94062799insA GRCh38
NC_000001.10:g.94528354_94528355insA , CM000663.1:g.94528354_94528355insA GRCh37
NC_000001.9:g.94300942_94300943insA NCBI36
NG_009073.1:g.63351_63352insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1761-46_1761-45insT MANE Select ENSP00000359245.3:n.1761-46_1761-45insT
ENST00000649773.1:c.1761-46_1761-45insT ENSP00000496882.1:n.1761-46_1761-45insT
ENST00000370225.3:c.1761-46_1761-45insT ENSP00000359245.3:n.1761-46_1761-45insT
ENST00000536513.5:c.-65+375_-65+376insT ENSP00000439707.2:n.-65+375_-65+376insT
NM_000350.2:c.1761-46_1761-45insT NP_000341.2:n.1761-46_1761-45insT
NM_000350.3:c.1761-46_1761-45insT MANE Select NP_000341.2:n.1761-46_1761-45insT