Canonical Allele Identifier: CA319162538
Community Standard Title: NM_007038.5(ADAMTS5):c.2075_2076delinsCA (p.Leu692Pro)
Gene: ADAMTS5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.26930035_26930036delinsTG , CM000683.2:g.26930035_26930036delinsTG GRCh38
NC_000021.8:g.28302354_28302355delinsTG , CM000683.1:g.28302354_28302355delinsTG GRCh37
NC_000021.7:g.27224225_27224226delinsTG NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_007038.5:c.2075_2076delinsCA MANE Select NP_008969.2:p.Leu692Pro
ENST00000284987.6:c.2075_2076delinsCA MANE Select ENSP00000284987.5:p.Leu692Pro
NM_007038.3:c.2075_2076delinsCA NP_008969.2:p.Leu692Pro
NM_007038.4:c.2075_2076delinsCA NP_008969.2:p.Leu692Pro
ENST00000284987.5:c.2075_2076delinsCA ENSP00000284987.5:p.Leu692Pro
ENST00000652031.1:c.1401_1402delinsCA
XM_011529448.1:c.1907_1908delinsCA XP_011527750.1:p.Leu636Pro
XM_024452053.1:c.2075_2076delinsCA XP_024307821.1:p.Leu692Pro
XM_024452054.1:c.1907_1908delinsCA XP_024307822.1:p.Leu636Pro
XR_937633.1:n.516-22538_516-22537delinsTG