Canonical Allele Identifier: CA2652575670

Gene: GSS

Linked Data

• gnomAD v4: 20-34935687-ATTTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935689_34935693del , CM000682.2:g.34935689_34935693del	GRCh38
NC_000020.10:g.33523492_33523496del , CM000682.1:g.33523492_33523496del	GRCh37
NC_000020.9:g.32987153_32987157del	NCBI36
NG_008848.1:g.25107_25111del
NG_008848.2:g.25336_25340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1071_*474+1075del	ENSP00000493524.1:n.*474+1071_*474+1075del
ENST00000642498.1:c.768-50_768-46del	ENSP00000493631.1:n.768-50_768-46del
ENST00000642538.1:c.*112-50_*112-46del	ENSP00000493927.1:n.*112-50_*112-46del
ENST00000643188.1:c.768-50_768-46del	ENSP00000493903.1:n.768-50_768-46del
ENST00000643443.1:c.*475-50_*475-46del	ENSP00000495572.1:n.*475-50_*475-46del
ENST00000643502.1:c.425-50_425-46del
ENST00000643908.1:n.1052+1251_1052+1255del
ENST00000644538.1:n.1045-50_1045-46del
ENST00000644793.1:c.768-50_768-46del	ENSP00000495750.1:n.768-50_768-46del
ENST00000645328.1:c.146-50_146-46del
ENST00000645408.1:c.367+1071_367+1075del
ENST00000645723.1:n.2007-50_2007-46del
ENST00000646405.1:c.*252+1071_*252+1075del	ENSP00000493744.1:n.*252+1071_*252+1075del
ENST00000646497.1:n.713-50_713-46del
ENST00000646502.1:n.1250-50_1250-46del
ENST00000646512.1:n.980+1071_980+1075del
ENST00000646735.1:c.435-50_435-46del	ENSP00000493763.1:n.435-50_435-46del
ENST00000646766.1:c.*398-50_*398-46del	ENSP00000494333.1:n.*398-50_*398-46del
ENST00000651619.1:c.768-50_768-46del MANE Select	ENSP00000498303.1:n.768-50_768-46del
ENST00000216951.6:c.768-50_768-46del	ENSP00000216951.2:n.768-50_768-46del
ENST00000451957.2:c.435-50_435-46del	ENSP00000407517.2:n.435-50_435-46del
NM_000178.2:c.768-50_768-46del	NP_000169.1:n.768-50_768-46del
XM_005260406.3:c.768-50_768-46del	XP_005260463.1:n.768-50_768-46del
XM_011528796.1:c.768-50_768-46del	XP_011527098.1:n.768-50_768-46del
NM_000178.4:c.768-50_768-46del MANE Select	NP_000169.1:n.768-50_768-46del
NM_001322494.1:c.768-50_768-46del	NP_001309423.1:n.768-50_768-46del
NM_001322495.1:c.768-50_768-46del	NP_001309424.1:n.768-50_768-46del