Canonical Allele Identifier: CA2507749907

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210159dup , CM000679.2:g.80210159dup GRCh38
NC_000017.10:g.78183958dup , CM000679.1:g.78183958dup GRCh37
NC_000017.9:g.75798553dup NCBI36
NG_008229.1:g.15242dup
NG_032778.1:g.45168dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+901dup (CARD14)
ENST00000326317.11:c.*293dup (SGSH) MANE Select ENSP00000314606.6:n.*293dup
ENST00000326317.10:c.*293dup (SGSH) ENSP00000314606.6:n.*293dup
ENST00000572257.5:c.551+1912dup (SGSH)
ENST00000573150.5:c.*1012dup (SGSH) ENSP00000459280.1:n.*1012dup
ENST00000575282.5:n.4685dup (SGSH)
NM_000199.3:c.*293dup (SGSH) NP_000190.1:n.*293dup
XM_005257583.3:c.949+1912dup (SGSH) XP_005257640.1:n.949+1912dup
NM_000199.4:c.*293dup (SGSH) NP_000190.1:n.*293dup
NM_001352921.1:c.*889dup (SGSH) NP_001339850.1:n.*889dup
NM_001352922.1:c.*852dup (SGSH) NP_001339851.1:n.*852dup
NR_148201.1:n.1783dup (SGSH)
XM_005257583.4:c.949+1912dup (SGSH) XP_005257640.1:n.949+1912dup
XM_017024952.1:c.*1706dup (SGSH) XP_016880441.1:n.*1706dup
XR_001752585.1:n.1822dup (SGSH)
XR_001752586.1:n.969+1912dup (SGSH)
XR_001752587.1:n.969+1912dup (SGSH)
XR_001752588.1:n.969+1912dup (SGSH)
XR_001752589.1:n.969+1912dup (SGSH)
XR_001752590.1:n.969+1912dup (SGSH)
XR_001752591.1:n.969+1912dup (SGSH)
XR_001752592.1:n.969+1912dup (SGSH)
XR_002958057.1:n.1024+1710dup (SGSH)
NM_000199.5:c.*293dup (SGSH) MANE Select NP_000190.1:n.*293dup
NM_001352921.2:c.*889dup (SGSH) NP_001339850.1:n.*889dup
NM_001352922.2:c.*852dup (SGSH) NP_001339851.1:n.*852dup
NR_148201.2:n.1716dup (SGSH)
NM_001352921.3:c.*889dup (SGSH) NP_001339850.1:n.*889dup