Canonical Allele Identifier: CA640117938
Gene: SHOX HGNC NCBI

Linked Data

gnomAD v2: X-595577-CG-C
gnomAD v4: X-634842-CG-C
MyVariant Identifiers: chrX:g.595578del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634847del , CM000685.2:g.634847del GRCh38
NC_000023.10:g.595582del , CM000685.1:g.595582del GRCh37
NC_000023.9:g.515582del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.486+21del MANE Select ENSP00000508521.1:n.486+21del
ENST00000334060.8:c.486+21del ENSP00000335505.3:n.486+21del
ENST00000381575.6:c.486+21del ENSP00000370987.1:n.486+21del
ENST00000381578.6:c.486+21del ENSP00000370990.1:n.486+21del
ENST00000554971.6:c.486+21del ENSP00000452016.1:n.486+21del
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