Canonical Allele Identifier: CA2692951364
Gene: SHOX HGNC NCBI

Linked Data

gnomAD v4: X-634795-A-AACTACTCAGGAGTGAGAAGATCACTTGAGT
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634795_634796insACTACTCAGGAGTGAGAAGATCACTTGAGT , CM000685.2:g.634795_634796insACTACTCAGGAGTGAGAAGATCACTTGAGT GRCh38
NC_000023.10:g.595530_595531insACTACTCAGGAGTGAGAAGATCACTTGAGT , CM000685.1:g.595530_595531insACTACTCAGGAGTGAGAAGATCACTTGAGT GRCh37
NC_000023.9:g.515530_515531insACTACTCAGGAGTGAGAAGATCACTTGAGT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.455_456insACTACTCAGGAGTGAGAAGATCACTTGAGT MANE Select ENSP00000508521.1:p.Gln153LeufsTer9
ENST00000334060.8:c.455_456insACTACTCAGGAGTGAGAAGATCACTTGAGT ENSP00000335505.3:p.Gln153LeufsTer9
ENST00000381575.6:c.455_456insACTACTCAGGAGTGAGAAGATCACTTGAGT ENSP00000370987.1:p.Gln153LeufsTer9
ENST00000381578.6:c.455_456insACTACTCAGGAGTGAGAAGATCACTTGAGT ENSP00000370990.1:p.Gln153LeufsTer9
ENST00000554971.6:c.455_456insACTACTCAGGAGTGAGAAGATCACTTGAGT ENSP00000452016.1:p.Gln153LeufsTer9
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