Canonical Allele Identifier: CA2692951916
Gene: SHOX HGNC NCBI

Linked Data

gnomAD v4: X-641200-TTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641203_641204del , CM000685.2:g.641203_641204del GRCh38
NC_000023.10:g.601938_601939del , CM000685.1:g.601938_601939del GRCh37
NC_000023.9:g.521938_521939del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.633+116_633+117del MANE Select ENSP00000508521.1:n.633+116_633+117del
ENST00000334060.8:c.633+116_633+117del ENSP00000335505.3:n.633+116_633+117del
ENST00000381575.6:c.633+116_633+117del ENSP00000370987.1:n.633+116_633+117del
ENST00000381578.6:c.633+116_633+117del ENSP00000370990.1:n.633+116_633+117del
ENST00000554971.6:c.633+116_633+117del ENSP00000452016.1:n.633+116_633+117del
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