Canonical Allele Identifier: CA2744617443

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041497_94041501del , CM000663.2:g.94041497_94041501del	GRCh38
NC_000001.10:g.94507053_94507057del , CM000663.1:g.94507053_94507057del	GRCh37
NC_000001.9:g.94279641_94279645del	NCBI36
NG_009073.1:g.84649_84653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-99_3329-95del MANE Select	ENSP00000359245.3:n.3329-99_3329-95del
ENST00000370225.3:c.3329-99_3329-95del	ENSP00000359245.3:n.3329-99_3329-95del
ENST00000536513.5:c.-64-1412_-64-1408del	ENSP00000439707.2:n.-64-1412_-64-1408del
NM_000350.2:c.3329-99_3329-95del	NP_000341.2:n.3329-99_3329-95del
NM_000350.3:c.3329-99_3329-95del MANE Select	NP_000341.2:n.3329-99_3329-95del