Canonical Allele Identifier: CA2646651182

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94060414-CTGGGAAGCTAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060417_94060428del , CM000663.2:g.94060417_94060428del	GRCh38
NC_000001.10:g.94525973_94525984del , CM000663.1:g.94525973_94525984del	GRCh37
NC_000001.9:g.94298561_94298572del	NCBI36
NG_009073.1:g.65724_65735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2160+111_2160+122del MANE Select	ENSP00000359245.3:n.2160+111_2160+122del
ENST00000649773.1:c.2160+111_2160+122del	ENSP00000496882.1:n.2160+111_2160+122del
ENST00000370225.3:c.2160+111_2160+122del	ENSP00000359245.3:n.2160+111_2160+122del
ENST00000472033.1:n.280+111_280+122del
ENST00000536513.5:c.-65+2748_-65+2759del	ENSP00000439707.2:n.-65+2748_-65+2759del
NM_000350.2:c.2160+111_2160+122del	NP_000341.2:n.2160+111_2160+122del
NM_000350.3:c.2160+111_2160+122del MANE Select	NP_000341.2:n.2160+111_2160+122del