Canonical Allele Identifier: CA2646647747

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94021291-A-ACGGTGATTCCATACTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021295_94021312dup , CM000663.2:g.94021295_94021312dup	GRCh38
NC_000001.10:g.94486851_94486868dup , CM000663.1:g.94486851_94486868dup	GRCh37
NC_000001.9:g.94259439_94259456dup	NCBI36
NG_009073.1:g.104841_104858dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4949_4966dup MANE Select	ENSP00000359245.3:p.Thr1655_Val1656insGluGluTyrGlyIleThr
ENST00000370225.3:c.4949_4966dup	ENSP00000359245.3:p.Thr1655_Val1656insGluGluTyrGlyIleThr
ENST00000460514.1:n.443_460dup
ENST00000470771.1:n.59_76dup
ENST00000536513.5:c.1325_1342dup	ENSP00000439707.2:p.Thr447_Val448insGluGluTyrGlyIleThr
NM_000350.2:c.4949_4966dup	NP_000341.2:p.Thr1655_Val1656insGluGluTyrGlyIleThr
NM_000350.3:c.4949_4966dup MANE Select	NP_000341.2:p.Thr1655_Val1656insGluGluTyrGlyIleThr