Canonical Allele Identifier: CA2574438652

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94062755-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062756_94062758del , CM000663.2:g.94062756_94062758del	GRCh38
NC_000001.10:g.94528312_94528314del , CM000663.1:g.94528312_94528314del	GRCh37
NC_000001.9:g.94300900_94300902del	NCBI36
NG_009073.1:g.63392_63394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-5_1761-3del MANE Select	ENSP00000359245.3:n.1761-5_1761-3del
ENST00000649773.1:c.1761-5_1761-3del	ENSP00000496882.1:n.1761-5_1761-3del
ENST00000370225.3:c.1761-5_1761-3del	ENSP00000359245.3:n.1761-5_1761-3del
ENST00000536513.5:c.-65+416_-65+418del	ENSP00000439707.2:n.-65+416_-65+418del
NM_000350.2:c.1761-5_1761-3del	NP_000341.2:n.1761-5_1761-3del
NM_000350.3:c.1761-5_1761-3del MANE Select	NP_000341.2:n.1761-5_1761-3del