Canonical Allele Identifier: CA2744617874

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043587del , CM000663.2:g.94043587del	GRCh38
NC_000001.10:g.94509143del , CM000663.1:g.94509143del	GRCh37
NC_000001.9:g.94281731del	NCBI36
NG_009073.1:g.82563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-112del MANE Select	ENSP00000359245.3:n.3051-112del
ENST00000370225.3:c.3051-112del	ENSP00000359245.3:n.3051-112del
ENST00000536513.5:c.-64-3498del	ENSP00000439707.2:n.-64-3498del
NM_000350.2:c.3051-112del	NP_000341.2:n.3051-112del
NM_000350.3:c.3051-112del MANE Select	NP_000341.2:n.3051-112del