Canonical Allele Identifier: CA2646650650
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94051687-T-TTCCA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94051689_94051692dup , CM000663.2:g.94051689_94051692dup GRCh38
NC_000001.10:g.94517245_94517248dup , CM000663.1:g.94517245_94517248dup GRCh37
NC_000001.9:g.94289833_94289836dup NCBI36
NG_009073.1:g.74459_74462dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2595_2598dup MANE Select ENSP00000359245.3:p.Thr867TrpfsTer19
ENST00000649773.1:c.2373_2376dup ENSP00000496882.1:p.Thr793TrpfsTer19
ENST00000370225.3:c.2595_2598dup ENSP00000359245.3:p.Thr867TrpfsTer19
ENST00000536513.5:c.-65+11483_-65+11486dup ENSP00000439707.2:n.-65+11483_-65+11486dup
NM_000350.2:c.2595_2598dup NP_000341.2:p.Thr867TrpfsTer19
NM_000350.3:c.2595_2598dup MANE Select NP_000341.2:p.Thr867TrpfsTer19
Search 100 bp 5'
Search 100 bp 3'