Canonical Allele Identifier: CA10642827
Gene: ADAMTS17 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.99972503del
GRCh37 chr15:g.100512708del
gnomAD v2:
15:100512707 AT / A
gnomAD v3:
15:99972502 AT / A
gnomAD v4:
chr15-99972502-AT-A
Joint Max Group AF 0.01820954 (EAS)
Genomes Max Group AF 0.01820954 (EAS)
ClinVar RCV:
RCV000283424
ClinVar Variation:
315169
dbSNP:
138786481
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.99972504del , CM000677.2:g.99972504del GRCh38
NC_000015.9:g.100512709del , CM000677.1:g.100512709del GRCh37
NC_000015.8:g.98330232del NCBI36
NG_016287.1:g.374476del
NG_016287.2:g.374476del

Transcript Alleles

HGVS Amino-acid Change
ENST00000268070.9:c.*1899del MANE Select ENSP00000268070.4:n.*1899del
ENST00000268070.8:c.*1899del ENSP00000268070.4:n.*1899del
NM_139057.2:c.*1899del NP_620688.2:n.*1899del
XR_429624.2:n.1698-184del
XR_932724.1:n.410-184del
NM_139057.3:c.*1899del NP_620688.2:n.*1899del
XM_005254872.3:c.*1899del XP_005254929.1:n.*1899del
XM_011521312.2:c.*1899del XP_011519614.1:n.*1899del
XM_017021973.2:c.*1899del XP_016877462.1:n.*1899del
XM_017021975.1:c.*1899del XP_016877464.1:n.*1899del
XM_017021976.1:c.*1899del XP_016877465.1:n.*1899del
XM_017021978.1:c.*1899del XP_016877467.1:n.*1899del
XM_017021979.1:c.*1899del XP_016877468.1:n.*1899del
XM_017021980.1:c.*1899del XP_016877469.1:n.*1899del
NM_139057.4:c.*1899del MANE Select NP_620688.2:n.*1899del
Search 100 bp 5'
Search 100 bp 3'