Canonical Allele Identifier: CA8817728

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs745741593
• ExAC: 17:78185757 AGAT / A
• gnomAD v2: 17-78185757-AGAT-A
• gnomAD v3: 17-80211958-AGAT-A
• gnomAD v4: 17-80211958-AGAT-A
• MyVariant Identifiers: chr17:g.78185758_78185760del (hg19) ; chr17:g.80211959_80211961del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80211962_80211964del , CM000679.2:g.80211962_80211964del	GRCh38
NC_000017.10:g.78185761_78185763del , CM000679.1:g.78185761_78185763del	GRCh37
NC_000017.9:g.75800356_75800358del	NCBI36
NG_008229.1:g.13440_13442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+2704_2844+2706del (CARD14)
ENST00000326317.11:c.949+110_949+112del (SGSH) MANE Select	ENSP00000314606.6:n.949+110_949+112del
ENST00000326317.10:c.949+110_949+112del (SGSH)	ENSP00000314606.6:n.949+110_949+112del
ENST00000570923.1:c.*269_*271del (SGSH)	ENSP00000458200.1:n.*269_*271del
ENST00000572257.5:c.551+110_551+112del (SGSH)
ENST00000573150.5:c.*159+110_*159+112del (SGSH)	ENSP00000459280.1:n.*159+110_*159+112del
ENST00000575282.5:n.2883_2885del (SGSH)
ENST00000576856.1:c.149-38_149-36del (SGSH)	ENSP00000460720.1:n.149-38_149-36del
NM_000199.3:c.949+110_949+112del (SGSH)	NP_000190.1:n.949+110_949+112del
XM_005257582.2:c.949+110_949+112del (SGSH)	XP_005257639.1:n.949+110_949+112del
XM_005257583.3:c.949+110_949+112del (SGSH)	XP_005257640.1:n.949+110_949+112del
XM_011525126.1:c.950-38_950-36del (SGSH)	XP_011523428.1:n.950-38_950-36del
XM_011525127.1:c.950-38_950-36del (SGSH)	XP_011523429.1:n.950-38_950-36del
XR_934532.1:n.1079_1081del (SGSH)
NM_000199.4:c.949+110_949+112del (SGSH)	NP_000190.1:n.949+110_949+112del
NM_001352921.1:c.949+110_949+112del (SGSH)	NP_001339850.1:n.949+110_949+112del
NM_001352922.1:c.950-38_950-36del (SGSH)	NP_001339851.1:n.950-38_950-36del
NR_148201.1:n.930+110_930+112del (SGSH)
XM_005257583.4:c.949+110_949+112del (SGSH)	XP_005257640.1:n.949+110_949+112del
XM_017024952.1:c.950-38_950-36del (SGSH)	XP_016880441.1:n.950-38_950-36del
XR_001752585.1:n.969+110_969+112del (SGSH)
XR_001752586.1:n.969+110_969+112del (SGSH)
XR_001752587.1:n.969+110_969+112del (SGSH)
XR_001752588.1:n.969+110_969+112del (SGSH)
XR_001752589.1:n.969+110_969+112del (SGSH)
XR_001752590.1:n.969+110_969+112del (SGSH)
XR_001752591.1:n.969+110_969+112del (SGSH)
XR_001752592.1:n.969+110_969+112del (SGSH)
XR_002958057.1:n.970-38_970-36del (SGSH)
XR_934532.2:n.1079_1081del (SGSH)
NM_000199.5:c.949+110_949+112del (SGSH) MANE Select	NP_000190.1:n.949+110_949+112del
NM_001352921.2:c.949+110_949+112del (SGSH)	NP_001339850.1:n.949+110_949+112del
NM_001352922.2:c.950-38_950-36del (SGSH)	NP_001339851.1:n.950-38_950-36del
NR_148201.2:n.863+110_863+112del (SGSH)
NM_001352921.3:c.949+110_949+112del (SGSH)	NP_001339850.1:n.949+110_949+112del