Canonical Allele Identifier: CA2640319285

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210182_80210184dup , CM000679.2:g.80210182_80210184dup GRCh38
NC_000017.10:g.78183981_78183983dup , CM000679.1:g.78183981_78183983dup GRCh37
NC_000017.9:g.75798576_75798578dup NCBI36
NG_008229.1:g.15217_15219dup
NG_032778.1:g.45191_45193dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+924_2844+926dup (CARD14)
ENST00000326317.11:c.*268_*270dup (SGSH) MANE Select ENSP00000314606.6:n.*268_*270dup
ENST00000326317.10:c.*268_*270dup (SGSH) ENSP00000314606.6:n.*268_*270dup
ENST00000572257.5:c.551+1887_551+1889dup (SGSH)
ENST00000573150.5:c.*987_*989dup (SGSH) ENSP00000459280.1:n.*987_*989dup
ENST00000575282.5:n.4660_4662dup (SGSH)
NM_000199.3:c.*268_*270dup (SGSH) NP_000190.1:n.*268_*270dup
XM_005257583.3:c.949+1887_949+1889dup (SGSH) XP_005257640.1:n.949+1887_949+1889dup
NM_000199.4:c.*268_*270dup (SGSH) NP_000190.1:n.*268_*270dup
NM_001352921.1:c.*864_*866dup (SGSH) NP_001339850.1:n.*864_*866dup
NM_001352922.1:c.*827_*829dup (SGSH) NP_001339851.1:n.*827_*829dup
NR_148201.1:n.1758_1760dup (SGSH)
XM_005257583.4:c.949+1887_949+1889dup (SGSH) XP_005257640.1:n.949+1887_949+1889dup
XM_017024952.1:c.*1681_*1683dup (SGSH) XP_016880441.1:n.*1681_*1683dup
XR_001752585.1:n.1797_1799dup (SGSH)
XR_001752586.1:n.969+1887_969+1889dup (SGSH)
XR_001752587.1:n.969+1887_969+1889dup (SGSH)
XR_001752588.1:n.969+1887_969+1889dup (SGSH)
XR_001752589.1:n.969+1887_969+1889dup (SGSH)
XR_001752590.1:n.969+1887_969+1889dup (SGSH)
XR_001752591.1:n.969+1887_969+1889dup (SGSH)
XR_001752592.1:n.969+1887_969+1889dup (SGSH)
XR_002958057.1:n.1024+1685_1024+1687dup (SGSH)
NM_000199.5:c.*268_*270dup (SGSH) MANE Select NP_000190.1:n.*268_*270dup
NM_001352921.2:c.*864_*866dup (SGSH) NP_001339850.1:n.*864_*866dup
NM_001352922.2:c.*827_*829dup (SGSH) NP_001339851.1:n.*827_*829dup
NR_148201.2:n.1691_1693dup (SGSH)
NM_001352921.3:c.*864_*866dup (SGSH) NP_001339850.1:n.*864_*866dup