Canonical Allele Identifier: CA2816224962
Gene: GSS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34931866_34931870del , CM000682.2:g.34931866_34931870del GRCh38
NC_000020.10:g.33519669_33519673del , CM000682.1:g.33519669_33519673del GRCh37
NC_000020.9:g.32983330_32983334del NCBI36
NG_008848.1:g.28932_28936del
NG_008848.2:g.29161_29165del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642498.1:c.1029+72_1029+76del ENSP00000493631.1:n.1029+72_1029+76del
ENST00000642538.1:c.*373+72_*373+76del ENSP00000493927.1:n.*373+72_*373+76del
ENST00000643188.1:c.1029+72_1029+76del ENSP00000493903.1:n.1029+72_1029+76del
ENST00000643443.1:c.*736+72_*736+76del ENSP00000495572.1:n.*736+72_*736+76del
ENST00000643502.1:c.686+72_686+76del
ENST00000643908.1:n.1247+72_1247+76del
ENST00000644538.1:n.1306+72_1306+76del
ENST00000644793.1:c.1029+72_1029+76del ENSP00000495750.1:n.1029+72_1029+76del
ENST00000645328.1:c.407+72_407+76del
ENST00000645408.1:c.562+72_562+76del
ENST00000645723.1:n.2268+72_2268+76del
ENST00000646405.1:c.*447+72_*447+76del ENSP00000493744.1:n.*447+72_*447+76del
ENST00000646512.1:n.1175+72_1175+76del
ENST00000646735.1:c.696+72_696+76del ENSP00000493763.1:n.696+72_696+76del
ENST00000651619.1:c.1029+72_1029+76del MANE Select ENSP00000498303.1:n.1029+72_1029+76del
ENST00000216951.6:c.1029+72_1029+76del ENSP00000216951.2:n.1029+72_1029+76del
ENST00000451957.2:c.696+72_696+76del ENSP00000407517.2:n.696+72_696+76del
NM_000178.2:c.1029+72_1029+76del NP_000169.1:n.1029+72_1029+76del
XM_005260406.3:c.1029+72_1029+76del XP_005260463.1:n.1029+72_1029+76del
XM_011528796.1:c.1029+72_1029+76del XP_011527098.1:n.1029+72_1029+76del
NM_000178.4:c.1029+72_1029+76del MANE Select NP_000169.1:n.1029+72_1029+76del
NM_001322494.1:c.1029+72_1029+76del NP_001309423.1:n.1029+72_1029+76del
NM_001322495.1:c.1029+72_1029+76del NP_001309424.1:n.1029+72_1029+76del