Canonical Allele Identifier: CA2277862928

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80211958_80211961delinsAGAT , CM000679.2:g.80211958_80211961delinsAGAT GRCh38
NC_000017.10:g.78185757_78185760delinsAGAT , CM000679.1:g.78185757_78185760delinsAGAT GRCh37
NC_000017.9:g.75800352_75800355delinsAGAT NCBI36
NG_008229.1:g.13440_13443delinsATCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+2700_2844+2703delinsAGAT (CARD14)
ENST00000326317.11:c.949+110_949+113delinsATCT (SGSH) MANE Select ENSP00000314606.6:n.949+110_949+113delinsATCT
ENST00000326317.10:c.949+110_949+113delinsATCT (SGSH) ENSP00000314606.6:n.949+110_949+113delinsATCT
ENST00000570923.1:c.*269_*272delinsATCT (SGSH) ENSP00000458200.1:n.*269_*272delinsATCT
ENST00000572257.5:c.551+110_551+113delinsATCT (SGSH)
ENST00000573150.5:c.*159+110_*159+113delinsATCT (SGSH) ENSP00000459280.1:n.*159+110_*159+113delinsATCT
ENST00000575282.5:n.2883_2886delinsATCT (SGSH)
ENST00000576856.1:c.149-38_149-35delinsATCT (SGSH) ENSP00000460720.1:n.149-38_149-35delinsATCT
NM_000199.3:c.949+110_949+113delinsATCT (SGSH) NP_000190.1:n.949+110_949+113delinsATCT
XM_005257582.2:c.949+110_949+113delinsATCT (SGSH) XP_005257639.1:n.949+110_949+113delinsATCT
XM_005257583.3:c.949+110_949+113delinsATCT (SGSH) XP_005257640.1:n.949+110_949+113delinsATCT
XM_011525126.1:c.950-38_950-35delinsATCT (SGSH) XP_011523428.1:n.950-38_950-35delinsATCT
XM_011525127.1:c.950-38_950-35delinsATCT (SGSH) XP_011523429.1:n.950-38_950-35delinsATCT
XR_934532.1:n.1079_1082delinsATCT (SGSH)
NM_000199.4:c.949+110_949+113delinsATCT (SGSH) NP_000190.1:n.949+110_949+113delinsATCT
NM_001352921.1:c.949+110_949+113delinsATCT (SGSH) NP_001339850.1:n.949+110_949+113delinsATCT
NM_001352922.1:c.950-38_950-35delinsATCT (SGSH) NP_001339851.1:n.950-38_950-35delinsATCT
NR_148201.1:n.930+110_930+113delinsATCT (SGSH)
XM_005257583.4:c.949+110_949+113delinsATCT (SGSH) XP_005257640.1:n.949+110_949+113delinsATCT
XM_017024952.1:c.950-38_950-35delinsATCT (SGSH) XP_016880441.1:n.950-38_950-35delinsATCT
XR_001752585.1:n.969+110_969+113delinsATCT (SGSH)
XR_001752586.1:n.969+110_969+113delinsATCT (SGSH)
XR_001752587.1:n.969+110_969+113delinsATCT (SGSH)
XR_001752588.1:n.969+110_969+113delinsATCT (SGSH)
XR_001752589.1:n.969+110_969+113delinsATCT (SGSH)
XR_001752590.1:n.969+110_969+113delinsATCT (SGSH)
XR_001752591.1:n.969+110_969+113delinsATCT (SGSH)
XR_001752592.1:n.969+110_969+113delinsATCT (SGSH)
XR_002958057.1:n.970-38_970-35delinsATCT (SGSH)
XR_934532.2:n.1079_1082delinsATCT (SGSH)
NM_000199.5:c.949+110_949+113delinsATCT (SGSH) MANE Select NP_000190.1:n.949+110_949+113delinsATCT
NM_001352921.2:c.949+110_949+113delinsATCT (SGSH) NP_001339850.1:n.949+110_949+113delinsATCT
NM_001352922.2:c.950-38_950-35delinsATCT (SGSH) NP_001339851.1:n.950-38_950-35delinsATCT
NR_148201.2:n.863+110_863+113delinsATCT (SGSH)
NM_001352921.3:c.949+110_949+113delinsATCT (SGSH) NP_001339850.1:n.949+110_949+113delinsATCT