Canonical Allele Identifier: CA2361422957
Gene: GSS HGNC NCBI

Linked Data

dbSNP Id: rs2081403659

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34931837_34931864del , CM000682.2:g.34931837_34931864del GRCh38
NC_000020.10:g.33519640_33519667del , CM000682.1:g.33519640_33519667del GRCh37
NC_000020.9:g.32983301_32983328del NCBI36
NG_008848.1:g.28948_28975del
NG_008848.2:g.29177_29204del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642498.1:c.1029+88_1029+115del ENSP00000493631.1:n.1029+88_1029+115del
ENST00000642538.1:c.*373+88_*373+115del ENSP00000493927.1:n.*373+88_*373+115del
ENST00000643188.1:c.1029+88_1029+115del ENSP00000493903.1:n.1029+88_1029+115del
ENST00000643443.1:c.*736+88_*736+115del ENSP00000495572.1:n.*736+88_*736+115del
ENST00000643502.1:c.686+88_686+115del
ENST00000643908.1:n.1247+88_1247+115del
ENST00000644538.1:n.1306+88_1306+115del
ENST00000644793.1:c.1029+88_1029+115del ENSP00000495750.1:n.1029+88_1029+115del
ENST00000645328.1:c.407+88_407+115del
ENST00000645408.1:c.562+88_562+115del
ENST00000645723.1:n.2268+88_2268+115del
ENST00000646405.1:c.*447+88_*447+115del ENSP00000493744.1:n.*447+88_*447+115del
ENST00000646512.1:n.1175+88_1175+115del
ENST00000646735.1:c.696+88_696+115del ENSP00000493763.1:n.696+88_696+115del
ENST00000651619.1:c.1029+88_1029+115del MANE Select ENSP00000498303.1:n.1029+88_1029+115del
ENST00000216951.6:c.1029+88_1029+115del ENSP00000216951.2:n.1029+88_1029+115del
ENST00000451957.2:c.696+88_696+115del ENSP00000407517.2:n.696+88_696+115del
NM_000178.2:c.1029+88_1029+115del NP_000169.1:n.1029+88_1029+115del
XM_005260406.3:c.1029+88_1029+115del XP_005260463.1:n.1029+88_1029+115del
XM_011528796.1:c.1029+88_1029+115del XP_011527098.1:n.1029+88_1029+115del
NM_000178.4:c.1029+88_1029+115del MANE Select NP_000169.1:n.1029+88_1029+115del
NM_001322494.1:c.1029+88_1029+115del NP_001309423.1:n.1029+88_1029+115del
NM_001322495.1:c.1029+88_1029+115del NP_001309424.1:n.1029+88_1029+115del