HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6021970_6021971insTTAGAGA , CM000674.2:g.6021970_6021971insTTAGAGA | GRCh38 |
NC_000012.11:g.6131136_6131137insTTAGAGA , CM000674.1:g.6131136_6131137insTTAGAGA | GRCh37 |
NC_000012.10:g.6001397_6001398insTTAGAGA | NCBI36 |
NG_009072.1:g.107700_107701insTCTCTAA | |
NG_009072.2:g.107700_107701insTCTCTAA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261405.10:c.3603_3604insTCTCTAA MANE Select | ENSP00000261405.5:p.Ala1202SerfsTer19 | |
ENST00000261405.9:c.3603_3604insTCTCTAA | ENSP00000261405.5:p.Ala1202SerfsTer19 | |
ENST00000538635.5:n.421-28037_421-28036insTCTCTAA | ||
NM_000552.3:c.3603_3604insTCTCTAA | NP_000543.2:p.Ala1202SerfsTer19 | |
NM_000552.4:c.3603_3604insTCTCTAA | NP_000543.2:p.Ala1202SerfsTer19 | |
NM_000552.5:c.3603_3604insTCTCTAA MANE Select | NP_000543.3:p.Ala1202SerfsTer19 |