Canonical Allele Identifier: CA2574255234
Community Standard Title: NM_005529.7(HSPG2):c.11992+10del
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21829375del , CM000663.2:g.21829375del GRCh38
NC_000001.10:g.22155868del , CM000663.1:g.22155868del GRCh37
NC_000001.9:g.22028455del NCBI36
NG_016740.1:g.112885del

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.11992+10del MANE Select NP_005520.4:n.11992+10del
ENST00000374695.8:c.11992+10del MANE Select ENSP00000363827.3:n.11992+10del
NM_001291860.1:c.11995+10del NP_001278789.1:n.11995+10del
NM_001291860.2:c.11995+10del NP_001278789.1:n.11995+10del
NM_005529.6:c.11992+10del NP_005520.4:n.11992+10del
ENST00000374695.7:c.11992+10del ENSP00000363827.3:n.11992+10del
ENST00000486901.1:n.1331+10del
XM_006710594.2:c.12556+10del XP_006710657.1:n.12556+10del
XM_006710595.2:c.12508+10del XP_006710658.1:n.12508+10del
XM_006710596.2:c.12487+10del XP_006710659.1:n.12487+10del
XM_006710597.2:c.12010+10del XP_006710660.1:n.12010+10del
XM_011541317.1:c.12559+10del XP_011539619.1:n.12559+10del
XM_011541318.1:c.12541+10del XP_011539620.1:n.12541+10del
XM_011541318.2:c.12541+10del XP_011539620.1:n.12541+10del
XM_011541319.1:c.12559+10del XP_011539621.1:n.12559+10del
XM_011541320.1:c.12280+10del XP_011539622.1:n.12280+10del
XM_011541321.1:c.12064+10del XP_011539623.1:n.12064+10del
XM_017001120.1:c.12187+10del XP_016856609.1:n.12187+10del
XM_017001121.1:c.12136+10del XP_016856610.1:n.12136+10del
XM_017001122.1:c.12133+10del XP_016856611.1:n.12133+10del