Canonical Allele Identifier: CA2361422940

Gene: GSS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34931788_34931790delinsCAG , CM000682.2:g.34931788_34931790delinsCAG	GRCh38
NC_000020.10:g.33519591_33519593delinsCAG , CM000682.1:g.33519591_33519593delinsCAG	GRCh37
NC_000020.9:g.32983252_32983254delinsCAG	NCBI36
NG_008848.1:g.29009_29011delinsCTG
NG_008848.2:g.29238_29240delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642498.1:c.1029+149_1029+151delinsCTG	ENSP00000493631.1:n.1029+149_1029+151delinsCTG
ENST00000642538.1:c.*373+149_*373+151delinsCTG	ENSP00000493927.1:n.*373+149_*373+151delinsCTG
ENST00000643188.1:c.1029+149_1029+151delinsCTG	ENSP00000493903.1:n.1029+149_1029+151delinsCTG
ENST00000643443.1:c.*736+149_*736+151delinsCTG	ENSP00000495572.1:n.*736+149_*736+151delinsCTG
ENST00000643502.1:c.686+149_686+151delinsCTG
ENST00000643908.1:n.1247+149_1247+151delinsCTG
ENST00000644538.1:n.1306+149_1306+151delinsCTG
ENST00000644793.1:c.1029+149_1029+151delinsCTG	ENSP00000495750.1:n.1029+149_1029+151delinsCTG
ENST00000645328.1:c.407+149_407+151delinsCTG
ENST00000645408.1:c.562+149_562+151delinsCTG
ENST00000645723.1:n.2268+149_2268+151delinsCTG
ENST00000646405.1:c.*447+149_*447+151delinsCTG	ENSP00000493744.1:n.*447+149_*447+151delinsCTG
ENST00000646512.1:n.1175+149_1175+151delinsCTG
ENST00000646735.1:c.696+149_696+151delinsCTG	ENSP00000493763.1:n.696+149_696+151delinsCTG
ENST00000651619.1:c.1029+149_1029+151delinsCTG MANE Select	ENSP00000498303.1:n.1029+149_1029+151delinsCTG
ENST00000216951.6:c.1029+149_1029+151delinsCTG	ENSP00000216951.2:n.1029+149_1029+151delinsCTG
ENST00000451957.2:c.696+149_696+151delinsCTG	ENSP00000407517.2:n.696+149_696+151delinsCTG
NM_000178.2:c.1029+149_1029+151delinsCTG	NP_000169.1:n.1029+149_1029+151delinsCTG
XM_005260406.3:c.1029+149_1029+151delinsCTG	XP_005260463.1:n.1029+149_1029+151delinsCTG
XM_011528796.1:c.1029+149_1029+151delinsCTG	XP_011527098.1:n.1029+149_1029+151delinsCTG
NM_000178.4:c.1029+149_1029+151delinsCTG MANE Select	NP_000169.1:n.1029+149_1029+151delinsCTG
NM_001322494.1:c.1029+149_1029+151delinsCTG	NP_001309423.1:n.1029+149_1029+151delinsCTG
NM_001322495.1:c.1029+149_1029+151delinsCTG	NP_001309424.1:n.1029+149_1029+151delinsCTG