Canonical Allele Identifier: CA2662046507
Gene: HOXD13 HGNC NCBI

Linked Data

gnomAD v4: 2-176093523-C-CGGGGCTATATCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093523_176093524insGGGGCTATATCG , CM000664.2:g.176093523_176093524insGGGGCTATATCG GRCh38
NC_000002.11:g.176958251_176958252insGGGGCTATATCG , CM000664.1:g.176958251_176958252insGGGGCTATATCG GRCh37
NC_000002.10:g.176666497_176666498insGGGGCTATATCG NCBI36
NG_008137.1:g.5720_5721insGGGGCTATATCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.633_634insGGGGCTATATCG MANE Select ENSP00000376322.3:p.Ser211_Thr212insGlyAlaIleSer
ENST00000392539.3:c.633_634insGGGGCTATATCG ENSP00000376322.3:p.Ser211_Thr212insGlyAlaIleSer
NM_000523.3:c.633_634insGGGGCTATATCG NP_000514.2:p.Ser211_Thr212insGlyAlaIleSer
XM_011511068.1:c.725-957_725-956insGGGGCTATATCG XP_011509370.1:n.725-957_725-956insGGGGCTATATCG
XM_011511068.2:c.725-957_725-956insGGGGCTATATCG XP_011509370.1:n.725-957_725-956insGGGGCTATATCG
NM_000523.4:c.633_634insGGGGCTATATCG MANE Select NP_000514.2:p.Ser211_Thr212insGlyAlaIleSer
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