Canonical Allele Identifier: CA16043372
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 374183
ClinVar RCV Id: RCV000414893 RCV001074613 RCV001196665 RCV001268822
dbSNP Id: rs1057518955
gnomAD v2: 1-94485158-T-TC
gnomAD v4: 1-94019602-T-TC
MyVariant Identifiers: chr1:g.94485159dupC (hg19) chr1:g.94485158_94485159insC (hg19) chr1:g.94019603dupC (hg38) chr1:g.94019602_94019603insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94019603dup , CM000663.2:g.94019603dup GRCh38
NC_000001.10:g.94485159dup , CM000663.1:g.94485159dup GRCh37
NC_000001.9:g.94257747dup NCBI36
NG_009073.1:g.106547dup

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5175dup MANE Select ENSP00000359245.3:p.Thr1726AspfsTer?
ENST00000370225.3:c.5175dup ENSP00000359245.3:p.Thr1726AspfsTer?
ENST00000460514.1:n.669dup
ENST00000470771.1:n.285dup
ENST00000536513.5:c.1551dup ENSP00000439707.2:p.Thr518AspfsTer?
NM_000350.2:c.5175dup NP_000341.2:p.Thr1726AspfsTer?
NM_000350.3:c.5175dup MANE Select NP_000341.2:p.Thr1726AspfsTer?
Search 100 bp 5'
Search 100 bp 3'