Canonical Allele Identifier: CA1017155370

Gene: GSS

Linked Data

• dbSNP Id: rs2081403230
• gnomAD v3: 20-34931788-CAG-C
• gnomAD v4: 20-34931788-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931791_34931792del , CM000682.2:g.34931791_34931792del	GRCh38
NC_000020.10:g.33519594_33519595del , CM000682.1:g.33519594_33519595del	GRCh37
NC_000020.9:g.32983255_32983256del	NCBI36
NG_008848.1:g.29009_29010del
NG_008848.2:g.29238_29239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.1029+149_1029+150del	ENSP00000493631.1:n.1029+149_1029+150del
ENST00000642538.1:c.*373+149_*373+150del	ENSP00000493927.1:n.*373+149_*373+150del
ENST00000643188.1:c.1029+149_1029+150del	ENSP00000493903.1:n.1029+149_1029+150del
ENST00000643443.1:c.*736+149_*736+150del	ENSP00000495572.1:n.*736+149_*736+150del
ENST00000643502.1:c.686+149_686+150del
ENST00000643908.1:n.1247+149_1247+150del
ENST00000644538.1:n.1306+149_1306+150del
ENST00000644793.1:c.1029+149_1029+150del	ENSP00000495750.1:n.1029+149_1029+150del
ENST00000645328.1:c.407+149_407+150del
ENST00000645408.1:c.562+149_562+150del
ENST00000645723.1:n.2268+149_2268+150del
ENST00000646405.1:c.*447+149_*447+150del	ENSP00000493744.1:n.*447+149_*447+150del
ENST00000646512.1:n.1175+149_1175+150del
ENST00000646735.1:c.696+149_696+150del	ENSP00000493763.1:n.696+149_696+150del
ENST00000651619.1:c.1029+149_1029+150del MANE Select	ENSP00000498303.1:n.1029+149_1029+150del
ENST00000216951.6:c.1029+149_1029+150del	ENSP00000216951.2:n.1029+149_1029+150del
ENST00000451957.2:c.696+149_696+150del	ENSP00000407517.2:n.696+149_696+150del
NM_000178.2:c.1029+149_1029+150del	NP_000169.1:n.1029+149_1029+150del
XM_005260406.3:c.1029+149_1029+150del	XP_005260463.1:n.1029+149_1029+150del
XM_011528796.1:c.1029+149_1029+150del	XP_011527098.1:n.1029+149_1029+150del
NM_000178.4:c.1029+149_1029+150del MANE Select	NP_000169.1:n.1029+149_1029+150del
NM_001322494.1:c.1029+149_1029+150del	NP_001309423.1:n.1029+149_1029+150del
NM_001322495.1:c.1029+149_1029+150del	NP_001309424.1:n.1029+149_1029+150del