HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152310686_152310701del , CM000663.2:g.152310686_152310701del | GRCh38 |
NC_000001.10:g.152283162_152283177del , CM000663.1:g.152283162_152283177del | GRCh37 |
NC_000001.9:g.150549786_150549801del | NCBI36 |
NG_016190.1:g.19505_19520del , LRG_1028:g.19505_19520del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368799.2:c.4187_4202del MANE Select | ENSP00000357789.1:p.Thr1396IlefsTer? | |
ENST00000368799.1:c.4187_4202del | ENSP00000357789.1:p.Thr1396IlefsTer? | |
NM_002016.1:c.4187_4202del , LRG_1028t1:c.4187_4202del | NP_002007.1:p.Thr1396IlefsTer? | |
XM_011509329.1:c.4187_4202del | XP_011507631.1:p.Thr1396IlefsTer? | |
NM_002016.2:c.4187_4202del MANE Select | NP_002007.1:p.Thr1396IlefsTer? |