Canonical Allele Identifier: CA640117908
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs1420515243
gnomAD v2: X-595570-C-CCGGGGG
gnomAD v3: X-634835-C-CCGGGGG
gnomAD v4: X-634835-C-CCGGGGG
MyVariant Identifiers: chrX:g.595570_595571insCGGGGG (hg19) chrX:g.634835_634836insCGGGGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634848_634853dup , CM000685.2:g.634848_634853dup GRCh38
NC_000023.10:g.595583_595588dup , CM000685.1:g.595583_595588dup GRCh37
NC_000023.9:g.515583_515588dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.486+22_486+27dup MANE Select ENSP00000508521.1:n.486+22_486+27dup
ENST00000334060.8:c.486+22_486+27dup ENSP00000335505.3:n.486+22_486+27dup
ENST00000381575.6:c.486+22_486+27dup ENSP00000370987.1:n.486+22_486+27dup
ENST00000381578.6:c.486+22_486+27dup ENSP00000370990.1:n.486+22_486+27dup
ENST00000554971.6:c.486+22_486+27dup ENSP00000452016.1:n.486+22_486+27dup
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