Canonical Allele Identifier: CA640121519
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs1484177595
gnomAD v2: X-601952-G-GA
gnomAD v3: X-641217-G-GA
gnomAD v4: X-641217-G-GA
MyVariant Identifiers: chrX:g.601952_601953insA (hg19) chrX:g.641217_641218insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641224dup , CM000685.2:g.641224dup GRCh38
NC_000023.10:g.601959dup , CM000685.1:g.601959dup GRCh37
NC_000023.9:g.521959dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.633+137dup MANE Select ENSP00000508521.1:n.633+137dup
ENST00000334060.8:c.633+137dup ENSP00000335505.3:n.633+137dup
ENST00000381575.6:c.633+137dup ENSP00000370987.1:n.633+137dup
ENST00000381578.6:c.633+137dup ENSP00000370990.1:n.633+137dup
ENST00000554971.6:c.633+137dup ENSP00000452016.1:n.633+137dup
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