Canonical Allele Identifier: CA2586966946

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043422del , CM000663.2:g.94043422del	GRCh38
NC_000001.10:g.94508978del , CM000663.1:g.94508978del	GRCh37
NC_000001.9:g.94281566del	NCBI36
NG_009073.1:g.82728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3104del MANE Select	ENSP00000359245.3:p.Gln1035ArgfsTer?
ENST00000370225.3:c.3104del	ENSP00000359245.3:p.Gln1035ArgfsTer?
ENST00000536513.5:c.-64-3333del	ENSP00000439707.2:n.-64-3333del
NM_000350.2:c.3104del	NP_000341.2:p.Gln1035ArgfsTer?
NM_000350.3:c.3104del MANE Select	NP_000341.2:p.Gln1035ArgfsTer?