Canonical Allele Identifier: CA2277864036

Linked Data

dbSNP Id: rs2041789443

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80214102del , CM000679.2:g.80214102del GRCh38
NC_000017.10:g.78187901del , CM000679.1:g.78187901del GRCh37
NC_000017.9:g.75802496del NCBI36
NG_008229.1:g.11299del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2845-1764del (CARD14)
ENST00000326317.11:c.663+70del (SGSH) MANE Select ENSP00000314606.6:n.663+70del
ENST00000326317.10:c.663+70del (SGSH) ENSP00000314606.6:n.663+70del
ENST00000570923.1:c.698+70del (SGSH) ENSP00000458200.1:n.698+70del
ENST00000572208.5:n.530+70del (SGSH)
ENST00000572257.5:c.265+70del (SGSH)
ENST00000573150.5:c.557+70del (SGSH) ENSP00000459280.1:n.557+70del
ENST00000574505.5:c.522+70del (SGSH)
ENST00000575282.5:n.742del (SGSH)
ENST00000576941.5:c.*79+70del (SGSH) ENSP00000461160.1:n.*79+70del
NM_000199.3:c.663+70del (SGSH) NP_000190.1:n.663+70del
XM_005257582.2:c.663+70del (SGSH) XP_005257639.1:n.663+70del
XM_005257583.3:c.663+70del (SGSH) XP_005257640.1:n.663+70del
XM_011525126.1:c.663+70del (SGSH) XP_011523428.1:n.663+70del
XM_011525127.1:c.663+70del (SGSH) XP_011523429.1:n.663+70del
XR_934532.1:n.683+70del (SGSH)
NM_000199.4:c.663+70del (SGSH) NP_000190.1:n.663+70del
NM_001352921.1:c.663+70del (SGSH) NP_001339850.1:n.663+70del
NM_001352922.1:c.663+70del (SGSH) NP_001339851.1:n.663+70del
NR_148201.1:n.644+70del (SGSH)
XM_005257583.4:c.663+70del (SGSH) XP_005257640.1:n.663+70del
XM_017024952.1:c.663+70del (SGSH) XP_016880441.1:n.663+70del
XR_001752585.1:n.683+70del (SGSH)
XR_001752586.1:n.683+70del (SGSH)
XR_001752587.1:n.683+70del (SGSH)
XR_001752588.1:n.683+70del (SGSH)
XR_001752589.1:n.683+70del (SGSH)
XR_001752590.1:n.683+70del (SGSH)
XR_001752591.1:n.683+70del (SGSH)
XR_001752592.1:n.683+70del (SGSH)
XR_002958057.1:n.683+70del (SGSH)
XR_934532.2:n.683+70del (SGSH)
NM_000199.5:c.663+70del (SGSH) MANE Select NP_000190.1:n.663+70del
NM_001352921.2:c.663+70del (SGSH) NP_001339850.1:n.663+70del
NM_001352922.2:c.663+70del (SGSH) NP_001339851.1:n.663+70del
NR_148201.2:n.577+70del (SGSH)
NM_001352921.3:c.663+70del (SGSH) NP_001339850.1:n.663+70del