Canonical Allele Identifier: CA2692951365
Gene: SHOX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634797_634800dup , CM000685.2:g.634797_634800dup GRCh38
NC_000023.10:g.595532_595535dup , CM000685.1:g.595532_595535dup GRCh37
NC_000023.9:g.515532_515535dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.457_460dup MANE Select ENSP00000508521.1:p.Leu154ProfsTer29
ENST00000334060.8:c.457_460dup ENSP00000335505.3:p.Leu154ProfsTer29
ENST00000381575.6:c.457_460dup ENSP00000370987.1:p.Leu154ProfsTer29
ENST00000381578.6:c.457_460dup ENSP00000370990.1:p.Leu154ProfsTer29
ENST00000554971.6:c.457_460dup ENSP00000452016.1:p.Leu154ProfsTer29