Canonical Allele Identifier: CA8818139

Gene: SGSH

Linked Data

• dbSNP Id: rs779865277
• ExAC: 17:78190849 GAGGCTGGCGCGGCTGGGAGAGC / G
• gnomAD v2: 17-78190849-GAGGCTGGCGCGGCTGGGAGAGC-G
• MyVariant Identifiers: chr17:g.78190850_78190871del (hg19) ; chr17:g.80217051_80217072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80217053_80217074del , CM000679.2:g.80217053_80217074del	GRCh38
NC_000017.10:g.78190852_78190873del , CM000679.1:g.78190852_78190873del	GRCh37
NC_000017.9:g.75805447_75805468del	NCBI36
NG_008229.1:g.8329_8350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326317.11:c.209_230del MANE Select	ENSP00000314606.6:p.Cys70SerfsTer?
ENST00000326317.10:c.209_230del	ENSP00000314606.6:p.Cys70SerfsTer?
ENST00000570427.1:c.209_230del	ENSP00000459765.1:p.Cys70SerfsTer?
ENST00000570923.1:c.244_265del	ENSP00000458200.1:p.Ala82ProfsTer?
ENST00000571051.5:n.229_250del
ENST00000571075.1:n.229_250del
ENST00000571675.5:n.229_250del
ENST00000572208.5:n.227_248del
ENST00000573150.5:c.209_230del	ENSP00000459280.1:p.Cys70SerfsTer23
ENST00000574505.5:c.154_175del
ENST00000575188.5:n.229_250del
ENST00000575282.5:n.218_239del
ENST00000576707.5:c.-53_-32del	ENSP00000461128.1:n.-53_-32del
ENST00000576941.5:c.209_230del	ENSP00000461160.1:p.Cys70SerfsTer?
NM_000199.3:c.209_230del	NP_000190.1:p.Cys70SerfsTer?
XM_005257582.2:c.209_230del	XP_005257639.1:p.Cys70SerfsTer?
XM_005257583.3:c.209_230del	XP_005257640.1:p.Cys70SerfsTer?
XM_011525126.1:c.209_230del	XP_011523428.1:p.Cys70SerfsTer?
XM_011525127.1:c.209_230del	XP_011523429.1:p.Cys70SerfsTer?
XR_934532.1:n.229_250del
NM_000199.4:c.209_230del	NP_000190.1:p.Cys70SerfsTer?
NM_001352921.1:c.209_230del	NP_001339850.1:p.Cys70SerfsTer?
NM_001352922.1:c.209_230del	NP_001339851.1:p.Cys70SerfsTer?
NR_148201.1:n.296_317del
XM_005257583.4:c.209_230del	XP_005257640.1:p.Cys70SerfsTer?
XM_017024952.1:c.209_230del	XP_016880441.1:p.Cys70SerfsTer?
XR_001752585.1:n.229_250del
XR_001752586.1:n.229_250del
XR_001752587.1:n.229_250del
XR_001752588.1:n.229_250del
XR_001752589.1:n.229_250del
XR_001752590.1:n.229_250del
XR_001752591.1:n.229_250del
XR_001752592.1:n.229_250del
XR_002958057.1:n.229_250del
XR_934532.2:n.229_250del
NM_000199.5:c.209_230del MANE Select	NP_000190.1:p.Cys70SerfsTer?
NM_001352921.2:c.209_230del	NP_001339850.1:p.Cys70SerfsTer?
NM_001352922.2:c.209_230del	NP_001339851.1:p.Cys70SerfsTer?
NR_148201.2:n.229_250del
NM_001352921.3:c.209_230del	NP_001339850.1:p.Cys70SerfsTer?