Canonical Allele Identifier: CA2816224963
Gene: GSS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34931867_34931868insAAACACA , CM000682.2:g.34931867_34931868insAAACACA GRCh38
NC_000020.10:g.33519670_33519671insAAACACA , CM000682.1:g.33519670_33519671insAAACACA GRCh37
NC_000020.9:g.32983331_32983332insAAACACA NCBI36
NG_008848.1:g.28931_28932insTGTGTTT
NG_008848.2:g.29160_29161insTGTGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000642498.1:c.1029+71_1029+72insTGTGTTT ENSP00000493631.1:n.1029+71_1029+72insTGTGTTT
ENST00000642538.1:c.*373+71_*373+72insTGTGTTT ENSP00000493927.1:n.*373+71_*373+72insTGTGTTT
ENST00000643188.1:c.1029+71_1029+72insTGTGTTT ENSP00000493903.1:n.1029+71_1029+72insTGTGTTT
ENST00000643443.1:c.*736+71_*736+72insTGTGTTT ENSP00000495572.1:n.*736+71_*736+72insTGTGTTT
ENST00000643502.1:c.686+71_686+72insTGTGTTT
ENST00000643908.1:n.1247+71_1247+72insTGTGTTT
ENST00000644538.1:n.1306+71_1306+72insTGTGTTT
ENST00000644793.1:c.1029+71_1029+72insTGTGTTT ENSP00000495750.1:n.1029+71_1029+72insTGTGTTT
ENST00000645328.1:c.407+71_407+72insTGTGTTT
ENST00000645408.1:c.562+71_562+72insTGTGTTT
ENST00000645723.1:n.2268+71_2268+72insTGTGTTT
ENST00000646405.1:c.*447+71_*447+72insTGTGTTT ENSP00000493744.1:n.*447+71_*447+72insTGTGTTT
ENST00000646512.1:n.1175+71_1175+72insTGTGTTT
ENST00000646735.1:c.696+71_696+72insTGTGTTT ENSP00000493763.1:n.696+71_696+72insTGTGTTT
ENST00000651619.1:c.1029+71_1029+72insTGTGTTT MANE Select ENSP00000498303.1:n.1029+71_1029+72insTGTGTTT
ENST00000216951.6:c.1029+71_1029+72insTGTGTTT ENSP00000216951.2:n.1029+71_1029+72insTGTGTTT
ENST00000451957.2:c.696+71_696+72insTGTGTTT ENSP00000407517.2:n.696+71_696+72insTGTGTTT
NM_000178.2:c.1029+71_1029+72insTGTGTTT NP_000169.1:n.1029+71_1029+72insTGTGTTT
XM_005260406.3:c.1029+71_1029+72insTGTGTTT XP_005260463.1:n.1029+71_1029+72insTGTGTTT
XM_011528796.1:c.1029+71_1029+72insTGTGTTT XP_011527098.1:n.1029+71_1029+72insTGTGTTT
NM_000178.4:c.1029+71_1029+72insTGTGTTT MANE Select NP_000169.1:n.1029+71_1029+72insTGTGTTT
NM_001322494.1:c.1029+71_1029+72insTGTGTTT NP_001309423.1:n.1029+71_1029+72insTGTGTTT
NM_001322495.1:c.1029+71_1029+72insTGTGTTT NP_001309424.1:n.1029+71_1029+72insTGTGTTT