Canonical Allele Identifier: CA1181422564

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046866_94046867delinsGC , CM000663.2:g.94046866_94046867delinsGC	GRCh38
NC_000001.10:g.94512422_94512423delinsGC , CM000663.1:g.94512422_94512423delinsGC	GRCh37
NC_000001.9:g.94285010_94285011delinsGC	NCBI36
NG_009073.1:g.79283_79284delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2918+52_2918+53delinsGC MANE Select	ENSP00000359245.3:n.2918+52_2918+53delins...
ENST00000649773.1:c.2696+52_2696+53delinsGC	ENSP00000496882.1:n.2696+52_2696+53delins...
ENST00000370225.3:c.2918+52_2918+53delinsGC	ENSP00000359245.3:n.2918+52_2918+53delins...
ENST00000536513.5:c.-64-6778_-64-6777delinsGC	ENSP00000439707.2:n.-64-6778_-64-6777deli...
NM_000350.2:c.2918+52_2918+53delinsGC	NP_000341.2:n.2918+52_2918+53delinsGC
NM_000350.3:c.2918+52_2918+53delinsGC MANE Select	NP_000341.2:n.2918+52_2918+53delinsGC