Canonical Allele Identifier: CA2277863653

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80213409_80213410delinsCT , CM000679.2:g.80213409_80213410delinsCT GRCh38
NC_000017.10:g.78187208_78187209delinsCT , CM000679.1:g.78187208_78187209delinsCT GRCh37
NC_000017.9:g.75801803_75801804delinsCT NCBI36
NG_008229.1:g.11991_11992delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-2457_2845-2456delinsCT (CARD14)
ENST00000326317.11:c.745+394_745+395delinsAG (SGSH) MANE Select ENSP00000314606.6:n.745+394_745+395delinsAG
ENST00000326317.10:c.745+394_745+395delinsAG (SGSH) ENSP00000314606.6:n.745+394_745+395delinsAG
ENST00000570923.1:c.780+394_780+395delinsAG (SGSH) ENSP00000458200.1:n.780+394_780+395delinsAG
ENST00000572257.5:c.347+394_347+395delinsAG (SGSH)
ENST00000573150.5:c.639+394_639+395delinsAG (SGSH) ENSP00000459280.1:n.639+394_639+395delinsAG
ENST00000575282.5:n.1434_1435delinsAG (SGSH)
ENST00000576941.5:c.*161+394_*161+395delinsAG (SGSH) ENSP00000461160.1:n.*161+394_*161+395delinsAG
NM_000199.3:c.745+394_745+395delinsAG (SGSH) NP_000190.1:n.745+394_745+395delinsAG
XM_005257582.2:c.745+394_745+395delinsAG (SGSH) XP_005257639.1:n.745+394_745+395delinsAG
XM_005257583.3:c.745+394_745+395delinsAG (SGSH) XP_005257640.1:n.745+394_745+395delinsAG
XM_011525126.1:c.745+394_745+395delinsAG (SGSH) XP_011523428.1:n.745+394_745+395delinsAG
XM_011525127.1:c.745+394_745+395delinsAG (SGSH) XP_011523429.1:n.745+394_745+395delinsAG
XR_934532.1:n.765+394_765+395delinsAG (SGSH)
NM_000199.4:c.745+394_745+395delinsAG (SGSH) NP_000190.1:n.745+394_745+395delinsAG
NM_001352921.1:c.745+394_745+395delinsAG (SGSH) NP_001339850.1:n.745+394_745+395delinsAG
NM_001352922.1:c.745+394_745+395delinsAG (SGSH) NP_001339851.1:n.745+394_745+395delinsAG
NR_148201.1:n.726+394_726+395delinsAG (SGSH)
XM_005257583.4:c.745+394_745+395delinsAG (SGSH) XP_005257640.1:n.745+394_745+395delinsAG
XM_017024952.1:c.745+394_745+395delinsAG (SGSH) XP_016880441.1:n.745+394_745+395delinsAG
XR_001752585.1:n.765+394_765+395delinsAG (SGSH)
XR_001752586.1:n.765+394_765+395delinsAG (SGSH)
XR_001752587.1:n.765+394_765+395delinsAG (SGSH)
XR_001752588.1:n.765+394_765+395delinsAG (SGSH)
XR_001752589.1:n.765+394_765+395delinsAG (SGSH)
XR_001752590.1:n.765+394_765+395delinsAG (SGSH)
XR_001752591.1:n.765+394_765+395delinsAG (SGSH)
XR_001752592.1:n.765+394_765+395delinsAG (SGSH)
XR_002958057.1:n.765+394_765+395delinsAG (SGSH)
XR_934532.2:n.765+394_765+395delinsAG (SGSH)
NM_000199.5:c.745+394_745+395delinsAG (SGSH) MANE Select NP_000190.1:n.745+394_745+395delinsAG
NM_001352921.2:c.745+394_745+395delinsAG (SGSH) NP_001339850.1:n.745+394_745+395delinsAG
NM_001352922.2:c.745+394_745+395delinsAG (SGSH) NP_001339851.1:n.745+394_745+395delinsAG
NR_148201.2:n.659+394_659+395delinsAG (SGSH)
NM_001352921.3:c.745+394_745+395delinsAG (SGSH) NP_001339850.1:n.745+394_745+395delinsAG