Canonical Allele Identifier: CA2652574738

Gene: GSS

Linked Data

• gnomAD v4: 20-34931952-T-TAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931953_34931956dup , CM000682.2:g.34931953_34931956dup	GRCh38
NC_000020.10:g.33519756_33519759dup , CM000682.1:g.33519756_33519759dup	GRCh37
NC_000020.9:g.32983417_32983420dup	NCBI36
NG_008848.1:g.28843_28846dup
NG_008848.2:g.29072_29075dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.1012_1015dup	ENSP00000493631.1:p.Tyr339SerfsTer8
ENST00000642538.1:c.*356_*359dup	ENSP00000493927.1:n.*356_*359dup
ENST00000643188.1:c.1012_1015dup	ENSP00000493903.1:p.Tyr339SerfsTer8
ENST00000643443.1:c.*719_*722dup	ENSP00000495572.1:n.*719_*722dup
ENST00000643502.1:c.669_672dup
ENST00000643908.1:n.1230_1233dup
ENST00000644538.1:n.1289_1292dup
ENST00000644793.1:c.1012_1015dup	ENSP00000495750.1:p.Tyr339SerfsTer8
ENST00000645328.1:c.390_393dup
ENST00000645408.1:c.545_548dup
ENST00000645723.1:n.2251_2254dup
ENST00000646405.1:c.*430_*433dup	ENSP00000493744.1:n.*430_*433dup
ENST00000646512.1:n.1158_1161dup
ENST00000646735.1:c.679_682dup	ENSP00000493763.1:p.Tyr228SerfsTer8
ENST00000651619.1:c.1012_1015dup MANE Select	ENSP00000498303.1:p.Tyr339SerfsTer8
ENST00000216951.6:c.1012_1015dup	ENSP00000216951.2:p.Tyr339SerfsTer8
ENST00000451957.2:c.679_682dup	ENSP00000407517.2:p.Tyr228SerfsTer8
NM_000178.2:c.1012_1015dup	NP_000169.1:p.Tyr339SerfsTer8
XM_005260406.3:c.1012_1015dup	XP_005260463.1:p.Tyr339SerfsTer8
XM_011528796.1:c.1012_1015dup	XP_011527098.1:p.Tyr339SerfsTer8
NM_000178.4:c.1012_1015dup MANE Select	NP_000169.1:p.Tyr339SerfsTer8
NM_001322494.1:c.1012_1015dup	NP_001309423.1:p.Tyr339SerfsTer8
NM_001322495.1:c.1012_1015dup	NP_001309424.1:p.Tyr339SerfsTer8