Canonical Allele Identifier: CA10330019
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs766164485
ExAC: X:601533 A / ATC
gnomAD v2: X-601533-A-ATC
gnomAD v4: X-640798-A-ATC
MyVariant Identifiers: chrX:g.601533_601534insTC (hg19) chrX:g.640798_640799insTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640806_640807dup , CM000685.2:g.640806_640807dup GRCh38
NC_000023.10:g.601541_601542dup , CM000685.1:g.601541_601542dup GRCh37
NC_000023.9:g.521541_521542dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.487-15_487-14dup MANE Select ENSP00000508521.1:n.487-15_487-14dup
ENST00000334060.8:c.487-15_487-14dup ENSP00000335505.3:n.487-15_487-14dup
ENST00000381575.6:c.487-15_487-14dup ENSP00000370987.1:n.487-15_487-14dup
ENST00000381578.6:c.487-15_487-14dup ENSP00000370990.1:n.487-15_487-14dup
ENST00000554971.6:c.487-15_487-14dup ENSP00000452016.1:n.487-15_487-14dup
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