HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9214462_9214463insCTCATCTTGAATTCCCATGTGTAATGGGA , CM000681.2:g.9214462_9214463insCTCATCTTGAATTCCCATGTGTAATGGGA | GRCh38 |
NC_000019.9:g.9325138_9325139insCTCATCTTGAATTCCCATGTGTAATGGGA , CM000681.1:g.9325138_9325139insCTCATCTTGAATTCCCATGTGTAATGGGA | GRCh37 |
NC_000019.8:g.9186138_9186139insCTCATCTTGAATTCCCATGTGTAATGGGA | NCBI36 |
NG_027953.1:g.5409_5410insTCCCATTACACATGGGAATTCAAGATGAG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000641244.1:c.375_376insTCCCATTACACATGGGAATTCAAGATGAG | ENSP00000493404.1:p.Ile126SerfsTer21 | |
ENST00000641669.1:c.375_376insTCCCATTACACATGGGAATTCAAGATGAG MANE Select | ENSP00000493383.1:p.Ile126SerfsTer21 | |
ENST00000308682.3:c.375_376insTCCCATTACACATGGGAATTCAAGATGAG | ENSP00000310488.2:p.Ile126SerfsTer21 | |
NM_001005191.2:c.375_376insTCCCATTACACATGGGAATTCAAGATGAG | NP_001005191.1:p.Ile126SerfsTer21 | |
NM_001005191.3:c.375_376insTCCCATTACACATGGGAATTCAAGATGAG MANE Select | NP_001005191.1:p.Ile126SerfsTer21 |