Canonical Allele Identifier: CA2744617865

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043570_94043572del , CM000663.2:g.94043570_94043572del	GRCh38
NC_000001.10:g.94509126_94509128del , CM000663.1:g.94509126_94509128del	GRCh37
NC_000001.9:g.94281714_94281716del	NCBI36
NG_009073.1:g.82578_82580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-97_3051-95del MANE Select	ENSP00000359245.3:n.3051-97_3051-95del
ENST00000370225.3:c.3051-97_3051-95del	ENSP00000359245.3:n.3051-97_3051-95del
ENST00000536513.5:c.-64-3483_-64-3481del	ENSP00000439707.2:n.-64-3483_-64-3481del
NM_000350.2:c.3051-97_3051-95del	NP_000341.2:n.3051-97_3051-95del
NM_000350.3:c.3051-97_3051-95del MANE Select	NP_000341.2:n.3051-97_3051-95del