HGVS | Genome Assembly |
---|---|
NC_000011.10:g.640099_640100insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG , CM000673.2:g.640099_640100insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG | GRCh38 |
NC_000011.9:g.640099_640100insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG , CM000673.1:g.640099_640100insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG | GRCh37 |
NC_000011.8:g.630099_630100insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG | NCBI36 |
NG_021241.1:g.7795_7796insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000176183.6:c.850_851insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG MANE Select | ENSP00000176183.5:p.Ser284ThrfsTer? | |
ENST00000176183.5:c.850_851insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG | ENSP00000176183.5:p.Ser284ThrfsTer? | |
NM_000797.3:c.850_851insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG | NP_000788.2:p.Ser284ThrfsTer? | |
NM_000797.4:c.850_851insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG MANE Select | NP_000788.2:p.Ser284ThrfsTer? |