Canonical Allele Identifier: CA981202587
Gene: ATP1B2 HGNC NCBI

Linked Data

gnomAD v3: 17-7648843-AG-A
gnomAD v4: 17-7648843-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7648846del , CM000679.2:g.7648846del GRCh38
NC_000017.10:g.7552164del , CM000679.1:g.7552164del GRCh37
NC_000017.9:g.7492889del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000577026.5:c.-6+2145del ENSP00000459145.1:n.-6+2145del
NM_001303263.1:c.-6+2145del NP_001290192.1:n.-6+2145del
NM_001303263.2:c.-6+2145del NP_001290192.1:n.-6+2145del
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