Canonical Allele Identifier: CA1139657478
Community Standard Title: NM_000523.4(HOXD13):c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC (p.Ala63_Ala71dup)
Gene: HOXD13 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093102_176093103insGGCGGCTGCGGCGGCGGCAGCGGCAGC , CM000664.2:g.176093102_176093103insGGCGGCTGCGGCGGCGGCAGCGGCAGC GRCh38
NC_000002.11:g.176957830_176957831insGGCGGCTGCGGCGGCGGCAGCGGCAGC , CM000664.1:g.176957830_176957831insGGCGGCTGCGGCGGCGGCAGCGGCAGC GRCh37
NC_000002.10:g.176666076_176666077insGGCGGCTGCGGCGGCGGCAGCGGCAGC NCBI36
NG_008137.1:g.5299_5300insGGCGGCTGCGGCGGCGGCAGCGGCAGC

Transcript Alleles

HGVS Amino-acid Change
NM_000523.4:c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC MANE Select NP_000514.2:p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAlaAla
ENST00000392539.4:c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC MANE Select ENSP00000376322.3:p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_000523.3:c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC NP_000514.2:p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAlaAla
ENST00000392539.3:c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC ENSP00000376322.3:p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAlaAla...
XM_011511068.1:c.725-1378_725-1377insGGCGGCTGCGGCGGCGGCAGCGGCAGC XP_011509370.1:n.725-1378_725-1377insGGCGGCTGCGGCGGCGGCAGCGGC...
XM_011511068.2:c.725-1378_725-1377insGGCGGCTGCGGCGGCGGCAGCGGCAGC XP_011509370.1:n.725-1378_725-1377insGGCGGCTGCGGCGGCGGCAGCGGC...
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