Canonical Allele Identifier: CA9825965

Gene: GSS

Linked Data

• dbSNP Id: rs762102866
• ExAC: 20:33523497 CAG / C
• gnomAD v2: 20-33523497-CAG-C
• gnomAD v4: 20-34935694-CAG-C
• MyVariant Identifiers: chr20:g.33523498_33523499del (hg19) ; chr20:g.34935695_34935696del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935695_34935696del , CM000682.2:g.34935695_34935696del	GRCh38
NC_000020.10:g.33523498_33523499del , CM000682.1:g.33523498_33523499del	GRCh37
NC_000020.9:g.32987159_32987160del	NCBI36
NG_008848.1:g.25103_25104del
NG_008848.2:g.25332_25333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1067_*474+1068del	ENSP00000493524.1:n.*474+1067_*474+1068del
ENST00000642498.1:c.768-54_768-53del	ENSP00000493631.1:n.768-54_768-53del
ENST00000642538.1:c.*112-54_*112-53del	ENSP00000493927.1:n.*112-54_*112-53del
ENST00000643188.1:c.768-54_768-53del	ENSP00000493903.1:n.768-54_768-53del
ENST00000643443.1:c.*475-54_*475-53del	ENSP00000495572.1:n.*475-54_*475-53del
ENST00000643502.1:c.425-54_425-53del
ENST00000643908.1:n.1052+1247_1052+1248del
ENST00000644538.1:n.1045-54_1045-53del
ENST00000644793.1:c.768-54_768-53del	ENSP00000495750.1:n.768-54_768-53del
ENST00000645328.1:c.146-54_146-53del
ENST00000645408.1:c.367+1067_367+1068del
ENST00000645723.1:n.2007-54_2007-53del
ENST00000646405.1:c.*252+1067_*252+1068del	ENSP00000493744.1:n.*252+1067_*252+1068del
ENST00000646497.1:n.713-54_713-53del
ENST00000646502.1:n.1250-54_1250-53del
ENST00000646512.1:n.980+1067_980+1068del
ENST00000646735.1:c.435-54_435-53del	ENSP00000493763.1:n.435-54_435-53del
ENST00000646766.1:c.*398-54_*398-53del	ENSP00000494333.1:n.*398-54_*398-53del
ENST00000651619.1:c.768-54_768-53del MANE Select	ENSP00000498303.1:n.768-54_768-53del
ENST00000216951.6:c.768-54_768-53del	ENSP00000216951.2:n.768-54_768-53del
ENST00000451957.2:c.435-54_435-53del	ENSP00000407517.2:n.435-54_435-53del
NM_000178.2:c.768-54_768-53del	NP_000169.1:n.768-54_768-53del
XM_005260406.3:c.768-54_768-53del	XP_005260463.1:n.768-54_768-53del
XM_011528796.1:c.768-54_768-53del	XP_011527098.1:n.768-54_768-53del
NM_000178.4:c.768-54_768-53del MANE Select	NP_000169.1:n.768-54_768-53del
NM_001322494.1:c.768-54_768-53del	NP_001309423.1:n.768-54_768-53del
NM_001322495.1:c.768-54_768-53del	NP_001309424.1:n.768-54_768-53del