Canonical Allele Identifier: CA2744617893

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043625_94043626del , CM000663.2:g.94043625_94043626del	GRCh38
NC_000001.10:g.94509181_94509182del , CM000663.1:g.94509181_94509182del	GRCh37
NC_000001.9:g.94281769_94281770del	NCBI36
NG_009073.1:g.82525_82526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-150_3051-149del MANE Select	ENSP00000359245.3:n.3051-150_3051-149del
ENST00000370225.3:c.3051-150_3051-149del	ENSP00000359245.3:n.3051-150_3051-149del
ENST00000536513.5:c.-64-3536_-64-3535del	ENSP00000439707.2:n.-64-3536_-64-3535del
NM_000350.2:c.3051-150_3051-149del	NP_000341.2:n.3051-150_3051-149del
NM_000350.3:c.3051-150_3051-149del MANE Select	NP_000341.2:n.3051-150_3051-149del