Canonical Allele Identifier: CA721212483
Gene:

Linked Data

dbSNP Id: rs1200669744
gnomAD v3: 16-49108598-A-ATAGGGC
gnomAD v4: 16-49108598-A-ATAGGGC
MyVariant Identifiers: chr16:g.49142509_49142510insTAGGGC (hg19) chr16:g.49108598_49108599insTAGGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108598_49108599insTAGGGC , CM000678.2:g.49108598_49108599insTAGGGC GRCh38
NC_000016.9:g.49142509_49142510insTAGGGC , CM000678.1:g.49142509_49142510insTAGGGC GRCh37
NC_000016.8:g.47700010_47700011insTAGGGC NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_933517.1:n.810+1345_810+1346insGCCCTA
XR_001752138.2:n.591+5377_591+5378insGCCCTA
XR_933517.2:n.810+1345_810+1346insGCCCTA
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