Canonical Allele Identifier: CA2640315390

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80213811del , CM000679.2:g.80213811del GRCh38
NC_000017.10:g.78187610del , CM000679.1:g.78187610del GRCh37
NC_000017.9:g.75802205del NCBI36
NG_008229.1:g.11591del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-2055del (CARD14)
ENST00000326317.11:c.739del (SGSH) MANE Select ENSP00000314606.6:p.Asp247ThrfsTer17
ENST00000326317.10:c.739del (SGSH) ENSP00000314606.6:p.Asp247ThrfsTer17
ENST00000570923.1:c.774del (SGSH) ENSP00000458200.1:p.Trp258Ter
ENST00000572257.5:c.341del (SGSH)
ENST00000573150.5:c.633del (SGSH) ENSP00000459280.1:p.Trp211Ter
ENST00000575282.5:n.1034del (SGSH)
ENST00000576941.5:c.*155del (SGSH) ENSP00000461160.1:n.*155del
NM_000199.3:c.739del (SGSH) NP_000190.1:p.Asp247ThrfsTer17
XM_005257582.2:c.739del (SGSH) XP_005257639.1:p.Asp247ThrfsTer17
XM_005257583.3:c.739del (SGSH) XP_005257640.1:p.Asp247ThrfsTer17
XM_011525126.1:c.739del (SGSH) XP_011523428.1:p.Asp247ThrfsTer17
XM_011525127.1:c.739del (SGSH) XP_011523429.1:p.Asp247ThrfsTer17
XR_934532.1:n.759del (SGSH)
NM_000199.4:c.739del (SGSH) NP_000190.1:p.Asp247ThrfsTer17
NM_001352921.1:c.739del (SGSH) NP_001339850.1:p.Asp247ThrfsTer17
NM_001352922.1:c.739del (SGSH) NP_001339851.1:p.Asp247ThrfsTer17
NR_148201.1:n.720del (SGSH)
XM_005257583.4:c.739del (SGSH) XP_005257640.1:p.Asp247ThrfsTer17
XM_017024952.1:c.739del (SGSH) XP_016880441.1:p.Asp247ThrfsTer17
XR_001752585.1:n.759del (SGSH)
XR_001752586.1:n.759del (SGSH)
XR_001752587.1:n.759del (SGSH)
XR_001752588.1:n.759del (SGSH)
XR_001752589.1:n.759del (SGSH)
XR_001752590.1:n.759del (SGSH)
XR_001752591.1:n.759del (SGSH)
XR_001752592.1:n.759del (SGSH)
XR_002958057.1:n.759del (SGSH)
XR_934532.2:n.759del (SGSH)
NM_000199.5:c.739del (SGSH) MANE Select NP_000190.1:p.Asp247ThrfsTer17
NM_001352921.2:c.739del (SGSH) NP_001339850.1:p.Asp247ThrfsTer17
NM_001352922.2:c.739del (SGSH) NP_001339851.1:p.Asp247ThrfsTer17
NR_148201.2:n.653del (SGSH)
NM_001352921.3:c.739del (SGSH) NP_001339850.1:p.Asp247ThrfsTer17