Canonical Allele Identifier: CA2361424266
Gene: GSS HGNC NCBI

Linked Data

dbSNP Id: rs2081431365

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34935199_34935201del , CM000682.2:g.34935199_34935201del GRCh38
NC_000020.10:g.33523002_33523004del , CM000682.1:g.33523002_33523004del GRCh37
NC_000020.9:g.32986663_32986665del NCBI36
NG_008848.1:g.25601_25603del
NG_008848.2:g.25830_25832del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642493.1:c.*474+1565_*474+1567del ENSP00000493524.1:n.*474+1565_*474+1567del
ENST00000642498.1:c.834+378_834+380del ENSP00000493631.1:n.834+378_834+380del
ENST00000642538.1:c.*178+378_*178+380del ENSP00000493927.1:n.*178+378_*178+380del
ENST00000643188.1:c.834+378_834+380del ENSP00000493903.1:n.834+378_834+380del
ENST00000643443.1:c.*541+378_*541+380del ENSP00000495572.1:n.*541+378_*541+380del
ENST00000643502.1:c.491+378_491+380del
ENST00000643908.1:n.1052+1745_1052+1747del
ENST00000644538.1:n.1111+378_1111+380del
ENST00000644793.1:c.834+378_834+380del ENSP00000495750.1:n.834+378_834+380del
ENST00000645328.1:c.212+378_212+380del
ENST00000645408.1:c.367+1565_367+1567del
ENST00000645723.1:n.2073+378_2073+380del
ENST00000646405.1:c.*252+1565_*252+1567del ENSP00000493744.1:n.*252+1565_*252+1567del
ENST00000646497.1:n.779+378_779+380del
ENST00000646502.1:n.1316+378_1316+380del
ENST00000646512.1:n.980+1565_980+1567del
ENST00000646735.1:c.501+378_501+380del ENSP00000493763.1:n.501+378_501+380del
ENST00000651619.1:c.834+378_834+380del MANE Select ENSP00000498303.1:n.834+378_834+380del
ENST00000216951.6:c.834+378_834+380del ENSP00000216951.2:n.834+378_834+380del
ENST00000451957.2:c.501+378_501+380del ENSP00000407517.2:n.501+378_501+380del
NM_000178.2:c.834+378_834+380del NP_000169.1:n.834+378_834+380del
XM_005260406.3:c.834+378_834+380del XP_005260463.1:n.834+378_834+380del
XM_011528796.1:c.834+378_834+380del XP_011527098.1:n.834+378_834+380del
NM_000178.4:c.834+378_834+380del MANE Select NP_000169.1:n.834+378_834+380del
NM_001322494.1:c.834+378_834+380del NP_001309423.1:n.834+378_834+380del
NM_001322495.1:c.834+378_834+380del NP_001309424.1:n.834+378_834+380del