Canonical Allele Identifier: CA673287
Gene: HSPG2 HGNC NCBI
ClinVar RCV:
RCV001677639
RCV003346646
RCV003346647
ClinVar Variation:
1267614
dbSNP:
60267433
gnomAD v2:
1:22207804 ACCCAGGGTGGCAG / A
gnomAD v3:
1:21881311 ACCCAGGGTGGCAG / A
gnomAD v4:
chr1-21881311-ACCCAGGGTGGCAG-A
Joint Max Group AF 0.99810002 (NFE)
Genomes Max Group AF 0.99305604 (NFE)
Exomes Max Group AF 0.99807008 (NFE)
MyVariant.info:
GRCh38 chr1:g.21881313_21881325del
GRCh38 chr1:g.21881312_21881324del
GRCh37 chr1:g.22207805_22207817del
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21881318_21881330del , CM000663.2:g.21881318_21881330del GRCh38
NC_000001.10:g.22207811_22207823del , CM000663.1:g.22207811_22207823del GRCh37
NC_000001.9:g.22080398_22080410del NCBI36
NG_016740.1:g.60934_60946del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.1818+15_1818+27del MANE Select ENSP00000363827.3:n.1818+15_1818+27del
ENST00000374695.7:c.1818+15_1818+27del ENSP00000363827.3:n.1818+15_1818+27del
NM_001291860.1:c.1821+15_1821+27del NP_001278789.1:n.1821+15_1821+27del
NM_005529.6:c.1818+15_1818+27del NP_005520.4:n.1818+15_1818+27del
XM_006710594.2:c.1869+15_1869+27del XP_006710657.1:n.1869+15_1869+27del
XM_006710595.2:c.1821+15_1821+27del XP_006710658.1:n.1821+15_1821+27del
XM_006710596.2:c.1872+15_1872+27del XP_006710659.1:n.1872+15_1872+27del
XM_006710597.2:c.1818+15_1818+27del XP_006710660.1:n.1818+15_1818+27del
XM_011541317.1:c.1872+15_1872+27del XP_011539619.1:n.1872+15_1872+27del
XM_011541318.1:c.1872+15_1872+27del XP_011539620.1:n.1872+15_1872+27del
XM_011541319.1:c.1872+15_1872+27del XP_011539621.1:n.1872+15_1872+27del
XM_011541320.1:c.1872+15_1872+27del XP_011539622.1:n.1872+15_1872+27del
XM_011541321.1:c.1872+15_1872+27del XP_011539623.1:n.1872+15_1872+27del
XM_011541322.1:c.1872+15_1872+27del XP_011539624.1:n.1872+15_1872+27del
XM_011541318.2:c.1872+15_1872+27del XP_011539620.1:n.1872+15_1872+27del
XM_017001120.1:c.2013+15_2013+27del XP_016856609.1:n.2013+15_2013+27del
XM_017001121.1:c.1962+15_1962+27del XP_016856610.1:n.1962+15_1962+27del
XM_017001122.1:c.1959+15_1959+27del XP_016856611.1:n.1959+15_1959+27del
NM_005529.7:c.1818+15_1818+27del MANE Select NP_005520.4:n.1818+15_1818+27del
NM_001291860.2:c.1821+15_1821+27del NP_001278789.1:n.1821+15_1821+27del
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