Canonical Allele Identifier: CA2277863899

Linked Data

dbSNP Id: rs2041775640

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80213896_80213898del , CM000679.2:g.80213896_80213898del GRCh38
NC_000017.10:g.78187695_78187697del , CM000679.1:g.78187695_78187697del GRCh37
NC_000017.9:g.75802290_75802292del NCBI36
NG_008229.1:g.11505_11507del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-1970_2845-1968del (CARD14)
ENST00000326317.11:c.664-11_664-9del (SGSH) MANE Select ENSP00000314606.6:n.664-11_664-9del
ENST00000326317.10:c.664-11_664-9del (SGSH) ENSP00000314606.6:n.664-11_664-9del
ENST00000570923.1:c.699-11_699-9del (SGSH) ENSP00000458200.1:n.699-11_699-9del
ENST00000572208.5:n.531-11_531-9del (SGSH)
ENST00000572257.5:c.266-11_266-9del (SGSH)
ENST00000573150.5:c.558-11_558-9del (SGSH) ENSP00000459280.1:n.558-11_558-9del
ENST00000574505.5:c.523-11_523-9del (SGSH)
ENST00000575282.5:n.948_950del (SGSH)
ENST00000576941.5:c.*80-11_*80-9del (SGSH) ENSP00000461160.1:n.*80-11_*80-9del
NM_000199.3:c.664-11_664-9del (SGSH) NP_000190.1:n.664-11_664-9del
XM_005257582.2:c.664-11_664-9del (SGSH) XP_005257639.1:n.664-11_664-9del
XM_005257583.3:c.664-11_664-9del (SGSH) XP_005257640.1:n.664-11_664-9del
XM_011525126.1:c.664-11_664-9del (SGSH) XP_011523428.1:n.664-11_664-9del
XM_011525127.1:c.664-11_664-9del (SGSH) XP_011523429.1:n.664-11_664-9del
XR_934532.1:n.684-11_684-9del (SGSH)
NM_000199.4:c.664-11_664-9del (SGSH) NP_000190.1:n.664-11_664-9del
NM_001352921.1:c.664-11_664-9del (SGSH) NP_001339850.1:n.664-11_664-9del
NM_001352922.1:c.664-11_664-9del (SGSH) NP_001339851.1:n.664-11_664-9del
NR_148201.1:n.645-11_645-9del (SGSH)
XM_005257583.4:c.664-11_664-9del (SGSH) XP_005257640.1:n.664-11_664-9del
XM_017024952.1:c.664-11_664-9del (SGSH) XP_016880441.1:n.664-11_664-9del
XR_001752585.1:n.684-11_684-9del (SGSH)
XR_001752586.1:n.684-11_684-9del (SGSH)
XR_001752587.1:n.684-11_684-9del (SGSH)
XR_001752588.1:n.684-11_684-9del (SGSH)
XR_001752589.1:n.684-11_684-9del (SGSH)
XR_001752590.1:n.684-11_684-9del (SGSH)
XR_001752591.1:n.684-11_684-9del (SGSH)
XR_001752592.1:n.684-11_684-9del (SGSH)
XR_002958057.1:n.684-11_684-9del (SGSH)
XR_934532.2:n.684-11_684-9del (SGSH)
NM_000199.5:c.664-11_664-9del (SGSH) MANE Select NP_000190.1:n.664-11_664-9del
NM_001352921.2:c.664-11_664-9del (SGSH) NP_001339850.1:n.664-11_664-9del
NM_001352922.2:c.664-11_664-9del (SGSH) NP_001339851.1:n.664-11_664-9del
NR_148201.2:n.578-11_578-9del (SGSH)
NM_001352921.3:c.664-11_664-9del (SGSH) NP_001339850.1:n.664-11_664-9del