HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152304831_152304848delinsGTGTCTGACTCTTCTGAA , CM000663.2:g.152304831_152304848delinsGTGTCTGACTCTTCTGAA | GRCh38 |
NC_000001.10:g.152277307_152277324delinsGTGTCTGACTCTTCTGAA , CM000663.1:g.152277307_152277324delinsGTGTCTGACTCTTCTGAA | GRCh37 |
NC_000001.9:g.150543931_150543948delinsGTGTCTGACTCTTCTGAA | NCBI36 |
NG_016190.1:g.25356_25373delinsTTCAGAAGAGTCAGACAC , LRG_1028:g.25356_25373delinsTTCAGAAGAGTCAGACAC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368799.2:c.10038_10055delinsTTCAGAAGAGTCAGACAC MANE Select | ENSP00000357789.1:p.His3346= | |
ENST00000368799.1:c.10038_10055delinsTTCAGAAGAGTCAGACAC | ENSP00000357789.1:p.His3346= | |
NM_002016.1:c.10038_10055delinsTTCAGAAGAGTCAGACAC , LRG_1028t1:c.10038_10055delinsTTCAGAAGAGTCAGACAC | NP_002007.1:p.His3346= | |
XM_011509329.1:c.9108+930_9108+947delinsTTCAGAAGAGTCAGACAC | XP_011507631.1:n.9108+930_9108+947delinsT... | |
NM_002016.2:c.10038_10055delinsTTCAGAAGAGTCAGACAC MANE Select | NP_002007.1:p.His3346= |