HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152305032_152305033insGTGGTGGTACCCCTGC , CM000663.2:g.152305032_152305033insGTGGTGGTACCCCTGC | GRCh38 |
NC_000001.10:g.152277508_152277509insGTGGTGGTACCCCTGC , CM000663.1:g.152277508_152277509insGTGGTGGTACCCCTGC | GRCh37 |
NC_000001.9:g.150544132_150544133insGTGGTGGTACCCCTGC | NCBI36 |
NG_016190.1:g.25172_25173insCAGGGGTACCACCACG , LRG_1028:g.25172_25173insCAGGGGTACCACCACG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368799.2:c.9854_9855insCAGGGGTACCACCACG MANE Select | ENSP00000357789.1:p.Gln3286ArgfsTer12 | |
ENST00000368799.1:c.9854_9855insCAGGGGTACCACCACG | ENSP00000357789.1:p.Gln3286ArgfsTer12 | |
NM_002016.1:c.9854_9855insCAGGGGTACCACCACG , LRG_1028t1:c.9854_9855insCAGGGGTACCACCACG | NP_002007.1:p.Gln3286ArgfsTer12 | |
XM_011509329.1:c.9108+746_9108+747insCAGGGGTACCACCACG | XP_011507631.1:n.9108+746_9108+747insCAGGGGTACCACCACG | |
NM_002016.2:c.9854_9855insCAGGGGTACCACCACG MANE Select | NP_002007.1:p.Gln3286ArgfsTer12 |