Canonical Allele Identifier: CA2586966903

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94031873_94031874dup , CM000663.2:g.94031873_94031874dup	GRCh38
NC_000001.10:g.94497429_94497430dup , CM000663.1:g.94497429_94497430dup	GRCh37
NC_000001.9:g.94270017_94270018dup	NCBI36
NG_009073.1:g.94276_94277dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4032_4033dup MANE Select	ENSP00000359245.3:p.Asn1345ThrfsTer?
ENST00000370225.3:c.4032_4033dup	ENSP00000359245.3:p.Asn1345ThrfsTer?
ENST00000536513.5:c.408_409dup	ENSP00000439707.2:p.Asn137ThrfsTer?
NM_000350.2:c.4032_4033dup	NP_000341.2:p.Asn1345ThrfsTer?
NM_000350.3:c.4032_4033dup MANE Select	NP_000341.2:p.Asn1345ThrfsTer?