Canonical Allele Identifier: CA19103424
Community Standard Title: NM_005529.7(HSPG2):c.9890-4T>G
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21839089A>C , CM000663.2:g.21839089A>C GRCh38
NC_000001.10:g.22165582A>C , CM000663.1:g.22165582A>C GRCh37
NC_000001.9:g.22038169A>C NCBI36
NG_016740.1:g.103169T>G

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.9890-4T>G MANE Select NP_005520.4:n.9890-4T>G
ENST00000374695.8:c.9890-4T>G MANE Select ENSP00000363827.3:n.9890-4T>G
NM_001291860.1:c.9893-4T>G NP_001278789.1:n.9893-4T>G
NM_001291860.2:c.9893-4T>G NP_001278789.1:n.9893-4T>G
NM_005529.6:c.9890-4T>G NP_005520.4:n.9890-4T>G
ENST00000374695.7:c.9890-4T>G ENSP00000363827.3:n.9890-4T>G
XM_006710594.2:c.10436-4T>G XP_006710657.1:n.10436-4T>G
XM_006710595.2:c.10388-4T>G XP_006710658.1:n.10388-4T>G
XM_006710596.2:c.10367-4T>G XP_006710659.1:n.10367-4T>G
XM_006710597.2:c.9890-4T>G XP_006710660.1:n.9890-4T>G
XM_011541317.1:c.10439-4T>G XP_011539619.1:n.10439-4T>G
XM_011541318.1:c.10439-4T>G XP_011539620.1:n.10439-4T>G
XM_011541318.2:c.10439-4T>G XP_011539620.1:n.10439-4T>G
XM_011541319.1:c.10439-4T>G XP_011539621.1:n.10439-4T>G
XM_011541320.1:c.10160-4T>G XP_011539622.1:n.10160-4T>G
XM_011541321.1:c.9944-4T>G XP_011539623.1:n.9944-4T>G
XM_017001120.1:c.10085-4T>G XP_016856609.1:n.10085-4T>G
XM_017001121.1:c.10034-4T>G XP_016856610.1:n.10034-4T>G
XM_017001122.1:c.10031-4T>G XP_016856611.1:n.10031-4T>G