Canonical Allele Identifier: CA1181428010

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060526_94060527delinsAT , CM000663.2:g.94060526_94060527delinsAT	GRCh38
NC_000001.10:g.94526082_94526083delinsAT , CM000663.1:g.94526082_94526083delinsAT	GRCh37
NC_000001.9:g.94298670_94298671delinsAT	NCBI36
NG_009073.1:g.65623_65624delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2160+10_2160+11delinsAT MANE Select	ENSP00000359245.3:n.2160+10_2160+11delinsAT
ENST00000649773.1:c.2160+10_2160+11delinsAT	ENSP00000496882.1:n.2160+10_2160+11delinsAT
ENST00000370225.3:c.2160+10_2160+11delinsAT	ENSP00000359245.3:n.2160+10_2160+11delinsAT
ENST00000472033.1:n.280+10_280+11delinsAT
ENST00000536513.5:c.-65+2647_-65+2648delinsAT	ENSP00000439707.2:n.-65+2647_-65+2648delinsAT
NM_000350.2:c.2160+10_2160+11delinsAT	NP_000341.2:n.2160+10_2160+11delinsAT
NM_000350.3:c.2160+10_2160+11delinsAT MANE Select	NP_000341.2:n.2160+10_2160+11delinsAT