Canonical Allele Identifier: CA2744617407

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041491_94041497del , CM000663.2:g.94041491_94041497del	GRCh38
NC_000001.10:g.94507047_94507053del , CM000663.1:g.94507047_94507053del	GRCh37
NC_000001.9:g.94279635_94279641del	NCBI36
NG_009073.1:g.84654_84660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-94_3329-88del MANE Select	ENSP00000359245.3:n.3329-94_3329-88del
ENST00000370225.3:c.3329-94_3329-88del	ENSP00000359245.3:n.3329-94_3329-88del
ENST00000536513.5:c.-64-1407_-64-1401del	ENSP00000439707.2:n.-64-1407_-64-1401del
NM_000350.2:c.3329-94_3329-88del	NP_000341.2:n.3329-94_3329-88del
NM_000350.3:c.3329-94_3329-88del MANE Select	NP_000341.2:n.3329-94_3329-88del