Canonical Allele Identifier: CA2646651367
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94060876-AGGAAAACCTCCCCT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060880_94060893del , CM000663.2:g.94060880_94060893del GRCh38
NC_000001.10:g.94526436_94526449del , CM000663.1:g.94526436_94526449del GRCh37
NC_000001.9:g.94299024_94299037del NCBI36
NG_009073.1:g.65260_65273del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1938-131_1938-118del MANE Select ENSP00000359245.3:n.1938-131_1938-118del
ENST00000649773.1:c.1938-131_1938-118del ENSP00000496882.1:n.1938-131_1938-118del
ENST00000370225.3:c.1938-131_1938-118del ENSP00000359245.3:n.1938-131_1938-118del
ENST00000472033.1:n.58-131_58-118del
ENST00000536513.5:c.-65+2284_-65+2297del ENSP00000439707.2:n.-65+2284_-65+2297del
NM_000350.2:c.1938-131_1938-118del NP_000341.2:n.1938-131_1938-118del
NM_000350.3:c.1938-131_1938-118del MANE Select NP_000341.2:n.1938-131_1938-118del
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