Canonical Allele Identifier: CA2646651643
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94062477-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062480dup , CM000663.2:g.94062480dup GRCh38
NC_000001.10:g.94528036dup , CM000663.1:g.94528036dup GRCh37
NC_000001.9:g.94300624dup NCBI36
NG_009073.1:g.63672dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1937+99dup MANE Select ENSP00000359245.3:n.1937+99dup
ENST00000649773.1:c.1937+99dup ENSP00000496882.1:n.1937+99dup
ENST00000370225.3:c.1937+99dup ENSP00000359245.3:n.1937+99dup
ENST00000536513.5:c.-65+696dup ENSP00000439707.2:n.-65+696dup
NM_000350.2:c.1937+99dup NP_000341.2:n.1937+99dup
NM_000350.3:c.1937+99dup MANE Select NP_000341.2:n.1937+99dup
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