Canonical Allele Identifier: CA981245728
Gene:

Linked Data

dbSNP Id: rs1981890711
gnomAD v3: 17-8137408-T-TCTGTATTACAAAAG
gnomAD v4: 17-8137408-T-TCTGTATTACAAAAG
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137416_8137417insCAAAAGCTGTATTA , CM000679.2:g.8137416_8137417insCAAAAGCTGTATTA GRCh38
NC_000017.10:g.8040734_8040735insCAAAAGCTGTATTA , CM000679.1:g.8040734_8040735insCAAAAGCTGTATTA GRCh37
NC_000017.9:g.7981459_7981460insCAAAAGCTGTATTA NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1433_183-1432insCAAAAGCTGTATTA
XR_934203.1:n.70-2061_70-2060insCAAAAGCTGTATTA
XR_934202.2:n.414-1433_414-1432insCAAAAGCTGTATTA
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