Canonical Allele Identifier: CA2277862107

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210348_80210349delinsCG , CM000679.2:g.80210348_80210349delinsCG GRCh38
NC_000017.10:g.78184147_78184148delinsCG , CM000679.1:g.78184147_78184148delinsCG GRCh37
NC_000017.9:g.75798742_75798743delinsCG NCBI36
NG_008229.1:g.15052_15053delinsCG
NG_032778.1:g.45357_45358delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+1090_2844+1091delinsCG (CARD14)
ENST00000326317.11:c.*103_*104delinsCG (SGSH) MANE Select ENSP00000314606.6:n.*103_*104delinsCG
ENST00000326317.10:c.*103_*104delinsCG (SGSH) ENSP00000314606.6:n.*103_*104delinsCG
ENST00000572257.5:c.551+1722_551+1723delinsCG (SGSH)
ENST00000573150.5:c.*822_*823delinsCG (SGSH) ENSP00000459280.1:n.*822_*823delinsCG
ENST00000575282.5:n.4495_4496delinsCG (SGSH)
NM_000199.3:c.*103_*104delinsCG (SGSH) NP_000190.1:n.*103_*104delinsCG
XM_005257583.3:c.949+1722_949+1723delinsCG (SGSH) XP_005257640.1:n.949+1722_949+1723delinsCG
NM_000199.4:c.*103_*104delinsCG (SGSH) NP_000190.1:n.*103_*104delinsCG
NM_001352921.1:c.*699_*700delinsCG (SGSH) NP_001339850.1:n.*699_*700delinsCG
NM_001352922.1:c.*662_*663delinsCG (SGSH) NP_001339851.1:n.*662_*663delinsCG
NR_148201.1:n.1593_1594delinsCG (SGSH)
XM_005257583.4:c.949+1722_949+1723delinsCG (SGSH) XP_005257640.1:n.949+1722_949+1723delinsCG
XM_017024952.1:c.*1516_*1517delinsCG (SGSH) XP_016880441.1:n.*1516_*1517delinsCG
XR_001752585.1:n.1632_1633delinsCG (SGSH)
XR_001752586.1:n.969+1722_969+1723delinsCG (SGSH)
XR_001752587.1:n.969+1722_969+1723delinsCG (SGSH)
XR_001752588.1:n.969+1722_969+1723delinsCG (SGSH)
XR_001752589.1:n.969+1722_969+1723delinsCG (SGSH)
XR_001752590.1:n.969+1722_969+1723delinsCG (SGSH)
XR_001752591.1:n.969+1722_969+1723delinsCG (SGSH)
XR_001752592.1:n.969+1722_969+1723delinsCG (SGSH)
XR_002958057.1:n.1024+1520_1024+1521delinsCG (SGSH)
NM_000199.5:c.*103_*104delinsCG (SGSH) MANE Select NP_000190.1:n.*103_*104delinsCG
NM_001352921.2:c.*699_*700delinsCG (SGSH) NP_001339850.1:n.*699_*700delinsCG
NM_001352922.2:c.*662_*663delinsCG (SGSH) NP_001339851.1:n.*662_*663delinsCG
NR_148201.2:n.1526_1527delinsCG (SGSH)
NM_001352921.3:c.*699_*700delinsCG (SGSH) NP_001339850.1:n.*699_*700delinsCG