HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152310966_152310967insAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCC , CM000663.2:g.152310966_152310967insAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCC | GRCh38 |
NC_000001.10:g.152283442_152283443insAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCC , CM000663.1:g.152283442_152283443insAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCC | GRCh37 |
NC_000001.9:g.150550066_150550067insAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCC | NCBI36 |
NG_016190.1:g.19238_19239insGCACTCAGGGTCACGTCACCATGAACCTTCCACTCGGGCCGGCAGCTCTAGACACTG , LRG_1028:g.19238_19239insGCACTCAGGGTCACGTCACCATGAACCTTCCACTCGGGCCGGCAGCTCTAGACACTG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368799.2:c.3920_3921insGCACTCAGGGTCACGTCACCATGAACCTTCCACTCGGGCCGGCAGCTCTAGACACTG MANE Select | ENSP00000357789.1:p.Arg1308HisfsTer19 | |
ENST00000368799.1:c.3920_3921insGCACTCAGGGTCACGTCACCATGAACCTTCCACTCGGGCCGGCAGCTCTAGACACTG | ENSP00000357789.1:p.Arg1308HisfsTer19 | |
NM_002016.1:c.3920_3921insGCACTCAGGGTCACGTCACCATGAACCTTCCACTCGGGCCGGCAGCTCTAGACACTG , LRG_1028t1:c.3920_3921insGCACTCAGGGTCACGTCACCATGAACCTTCCACTCGGGCCGGCAGCTCTAGACACTG | NP_002007.1:p.Arg1308HisfsTer19 | |
XM_011509329.1:c.3920_3921insGCACTCAGGGTCACGTCACCATGAACCTTCCACTCGGGCCGGCAGCTCTAGACACTG | XP_011507631.1:p.Arg1308HisfsTer19 | |
NM_002016.2:c.3920_3921insGCACTCAGGGTCACGTCACCATGAACCTTCCACTCGGGCCGGCAGCTCTAGACACTG MANE Select | NP_002007.1:p.Arg1308HisfsTer19 |