HGVS | Genome Assembly |
---|---|
NC_000011.10:g.640170_640171insCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGC , CM000673.2:g.640170_640171insCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGC | GRCh38 |
NC_000011.9:g.640170_640171insCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGC , CM000673.1:g.640170_640171insCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGC | GRCh37 |
NC_000011.8:g.630170_630171insCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGC | NCBI36 |
NG_021241.1:g.7866_7867insCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000176183.6:c.921_922insCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGC MANE Select | ENSP00000176183.5:p.Gly307_Ser308insProAs... | |
ENST00000176183.5:c.921_922insCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGC | ENSP00000176183.5:p.Gly307_Ser308insProAs... | |
NM_000797.3:c.921_922insCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGC | NP_000788.2:p.Gly307_Ser308insProAspCysAl... | |
NM_000797.4:c.921_922insCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGTGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGC MANE Select | NP_000788.2:p.Gly307_Ser308insProAspCysAl... |