Canonical Allele Identifier: CA2640316687

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80213922_80213923del , CM000679.2:g.80213922_80213923del GRCh38
NC_000017.10:g.78187721_78187722del , CM000679.1:g.78187721_78187722del GRCh37
NC_000017.9:g.75802316_75802317del NCBI36
NG_008229.1:g.11479_11480del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-1944_2845-1943del (CARD14)
ENST00000326317.11:c.664-37_664-36del (SGSH) MANE Select ENSP00000314606.6:n.664-37_664-36del
ENST00000326317.10:c.664-37_664-36del (SGSH) ENSP00000314606.6:n.664-37_664-36del
ENST00000570923.1:c.699-37_699-36del (SGSH) ENSP00000458200.1:n.699-37_699-36del
ENST00000572208.5:n.531-37_531-36del (SGSH)
ENST00000572257.5:c.266-37_266-36del (SGSH)
ENST00000573150.5:c.558-37_558-36del (SGSH) ENSP00000459280.1:n.558-37_558-36del
ENST00000574505.5:c.523-37_523-36del (SGSH)
ENST00000575282.5:n.922_923del (SGSH)
ENST00000576941.5:c.*80-37_*80-36del (SGSH) ENSP00000461160.1:n.*80-37_*80-36del
NM_000199.3:c.664-37_664-36del (SGSH) NP_000190.1:n.664-37_664-36del
XM_005257582.2:c.664-37_664-36del (SGSH) XP_005257639.1:n.664-37_664-36del
XM_005257583.3:c.664-37_664-36del (SGSH) XP_005257640.1:n.664-37_664-36del
XM_011525126.1:c.664-37_664-36del (SGSH) XP_011523428.1:n.664-37_664-36del
XM_011525127.1:c.664-37_664-36del (SGSH) XP_011523429.1:n.664-37_664-36del
XR_934532.1:n.684-37_684-36del (SGSH)
NM_000199.4:c.664-37_664-36del (SGSH) NP_000190.1:n.664-37_664-36del
NM_001352921.1:c.664-37_664-36del (SGSH) NP_001339850.1:n.664-37_664-36del
NM_001352922.1:c.664-37_664-36del (SGSH) NP_001339851.1:n.664-37_664-36del
NR_148201.1:n.645-37_645-36del (SGSH)
XM_005257583.4:c.664-37_664-36del (SGSH) XP_005257640.1:n.664-37_664-36del
XM_017024952.1:c.664-37_664-36del (SGSH) XP_016880441.1:n.664-37_664-36del
XR_001752585.1:n.684-37_684-36del (SGSH)
XR_001752586.1:n.684-37_684-36del (SGSH)
XR_001752587.1:n.684-37_684-36del (SGSH)
XR_001752588.1:n.684-37_684-36del (SGSH)
XR_001752589.1:n.684-37_684-36del (SGSH)
XR_001752590.1:n.684-37_684-36del (SGSH)
XR_001752591.1:n.684-37_684-36del (SGSH)
XR_001752592.1:n.684-37_684-36del (SGSH)
XR_002958057.1:n.684-37_684-36del (SGSH)
XR_934532.2:n.684-37_684-36del (SGSH)
NM_000199.5:c.664-37_664-36del (SGSH) MANE Select NP_000190.1:n.664-37_664-36del
NM_001352921.2:c.664-37_664-36del (SGSH) NP_001339850.1:n.664-37_664-36del
NM_001352922.2:c.664-37_664-36del (SGSH) NP_001339851.1:n.664-37_664-36del
NR_148201.2:n.578-37_578-36del (SGSH)
NM_001352921.3:c.664-37_664-36del (SGSH) NP_001339850.1:n.664-37_664-36del