Canonical Allele Identifier: CA2580063545
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2099572
ClinVar RCV Id: RCV003021784
gnomAD v4: 1-94060665-TCTCCAAGACGATG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060669_94060681del , CM000663.2:g.94060669_94060681del GRCh38
NC_000001.10:g.94526225_94526237del , CM000663.1:g.94526225_94526237del GRCh37
NC_000001.9:g.94298813_94298825del NCBI36
NG_009073.1:g.65472_65484del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2019_2031del MANE Select ENSP00000359245.3:p.Ser673ArgfsTer6
ENST00000649773.1:c.2019_2031del ENSP00000496882.1:p.Ser673ArgfsTer6
ENST00000370225.3:c.2019_2031del ENSP00000359245.3:p.Ser673ArgfsTer6
ENST00000472033.1:n.139_151del
ENST00000536513.5:c.-65+2496_-65+2508del ENSP00000439707.2:n.-65+2496_-65+2508del
NM_000350.2:c.2019_2031del NP_000341.2:p.Ser673ArgfsTer6
NM_000350.3:c.2019_2031del MANE Select NP_000341.2:p.Ser673ArgfsTer6
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