Canonical Allele Identifier: CA2630607958
Community Standard Title: NM_139057.4(ADAMTS17):c.1622_1641del (p.His541ProfsTer24)
Gene: ADAMTS17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100132092_100132111del , CM000677.2:g.100132092_100132111del GRCh38
NC_000015.9:g.100672297_100672316del , CM000677.1:g.100672297_100672316del GRCh37
NC_000015.8:g.98489820_98489839del NCBI36
NG_016287.1:g.214873_214892del
NG_016287.2:g.214873_214892del

Transcript Alleles

HGVS Amino-acid Change
NM_139057.4:c.1622_1641del MANE Select NP_620688.2:p.His541ProfsTer24
ENST00000268070.9:c.1622_1641del MANE Select ENSP00000268070.4:p.His541ProfsTer24
NM_139057.2:c.1622_1641del NP_620688.2:p.His541ProfsTer24
NM_139057.3:c.1622_1641del NP_620688.2:p.His541ProfsTer24
ENST00000268070.8:c.1622_1641del ENSP00000268070.4:p.His541ProfsTer24
ENST00000378898.8:n.1303_1322del
ENST00000568565.2:c.1622_1641del ENSP00000456161.2:p.His541ProfsTer24
XM_005254872.2:c.1622_1641del XP_005254929.1:p.His541ProfsTer24
XM_005254872.3:c.1622_1641del XP_005254929.1:p.His541ProfsTer24
XM_011521312.1:c.1622_1641del XP_011519614.1:p.His541ProfsTer24
XM_011521312.2:c.1622_1641del XP_011519614.1:p.His541ProfsTer24
XM_017021973.2:c.1754_1773del XP_016877462.1:p.His585ProfsTer24
XM_017021974.1:c.1754_1773del XP_016877463.1:p.His585ProfsTer24
XM_017021975.1:c.1754_1773del XP_016877464.1:p.His585ProfsTer24
XM_017021976.1:c.1025_1044del XP_016877465.1:p.His342ProfsTer24
XM_017021977.1:c.1754_1773del XP_016877466.1:p.His585ProfsTer24
XM_017021978.1:c.656_675del XP_016877467.1:p.His219ProfsTer24
XM_017021979.1:c.434_453del XP_016877468.1:p.His145ProfsTer24
XM_017021980.1:c.434_453del XP_016877469.1:p.His145ProfsTer24
XM_017021981.1:c.1754_1773del XP_016877470.1:p.His585ProfsTer24
XM_017021982.1:c.143_162del XP_016877471.1:p.His48ProfsTer24
XM_017021983.1:c.27-15093_27-15074del XP_016877472.1:n.27-15093_27-15074del
XM_017021984.1:c.893_912del XP_016877473.1:p.His298ProfsTer24
XR_001751118.1:n.2776_2795del
XR_001751119.1:n.2776_2795del
XR_001751120.1:n.2776_2795del