Canonical Allele Identifier: CA2692951398

Gene: SHOX

Linked Data

• gnomAD v4: X-634842-CGGGGGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.634849_634855del , CM000685.2:g.634849_634855del	GRCh38
NC_000023.10:g.595584_595590del , CM000685.1:g.595584_595590del	GRCh37
NC_000023.9:g.515584_515590del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.486+23_486+29del MANE Select	ENSP00000508521.1:n.486+23_486+29del
ENST00000334060.8:c.486+23_486+29del	ENSP00000335505.3:n.486+23_486+29del
ENST00000381575.6:c.486+23_486+29del	ENSP00000370987.1:n.486+23_486+29del
ENST00000381578.6:c.486+23_486+29del	ENSP00000370990.1:n.486+23_486+29del
ENST00000554971.6:c.486+23_486+29del	ENSP00000452016.1:n.486+23_486+29del