Canonical Allele Identifier: CA2692951922

Gene: SHOX

Linked Data

• gnomAD v4: X-641207-CTGGCCCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.641208_641215del , CM000685.2:g.641208_641215del	GRCh38
NC_000023.10:g.601943_601950del , CM000685.1:g.601943_601950del	GRCh37
NC_000023.9:g.521943_521950del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.633+121_633+128del MANE Select	ENSP00000508521.1:n.633+121_633+128del
ENST00000334060.8:c.633+121_633+128del	ENSP00000335505.3:n.633+121_633+128del
ENST00000381575.6:c.633+121_633+128del	ENSP00000370987.1:n.633+121_633+128del
ENST00000381578.6:c.633+121_633+128del	ENSP00000370990.1:n.633+121_633+128del
ENST00000554971.6:c.633+121_633+128del	ENSP00000452016.1:n.633+121_633+128del