HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945851_138945867dup , CM000665.2:g.138945851_138945867dup | GRCh38 |
NC_000003.11:g.138664693_138664709dup , CM000665.1:g.138664693_138664709dup | GRCh37 |
NC_000003.10:g.140147383_140147399dup | NCBI36 |
NG_012454.1:g.6276_6292dup | |
NG_029796.1:g.3618_3634dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.858_874dup MANE Select | ENSP00000497217.1:p.Pro292LeufsTer? | |
ENST00000330315.3:c.858_874dup | ENSP00000333188.3:p.Pro292LeufsTer? | |
NM_023067.3:c.858_874dup | NP_075555.1:p.Pro292LeufsTer? | |
NM_023067.4:c.858_874dup MANE Select | NP_075555.1:p.Pro292LeufsTer? |