Canonical Allele Identifier: CA1181422555

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046844_94046845delinsGC , CM000663.2:g.94046844_94046845delinsGC	GRCh38
NC_000001.10:g.94512400_94512401delinsGC , CM000663.1:g.94512400_94512401delinsGC	GRCh37
NC_000001.9:g.94284988_94284989delinsGC	NCBI36
NG_009073.1:g.79305_79306delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2918+74_2918+75delinsGC MANE Select	ENSP00000359245.3:n.2918+74_2918+75delins...
ENST00000649773.1:c.2696+74_2696+75delinsGC	ENSP00000496882.1:n.2696+74_2696+75delins...
ENST00000370225.3:c.2918+74_2918+75delinsGC	ENSP00000359245.3:n.2918+74_2918+75delins...
ENST00000536513.5:c.-64-6756_-64-6755delinsGC	ENSP00000439707.2:n.-64-6756_-64-6755deli...
NM_000350.2:c.2918+74_2918+75delinsGC	NP_000341.2:n.2918+74_2918+75delinsGC
NM_000350.3:c.2918+74_2918+75delinsGC MANE Select	NP_000341.2:n.2918+74_2918+75delinsGC