HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816311del , CM000681.2:g.4816311del | GRCh38 |
NC_000019.9:g.4816323del , CM000681.1:g.4816323del | GRCh37 |
NC_000019.8:g.4767323del | NCBI36 |
NG_031998.1:g.20435del , LRG_358:g.20435del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.2070del MANE Select | ENSP00000248244.4:p.Leu691Ter | |
ENST00000248244.5:c.2070del | ENSP00000248244.4:p.Leu691Ter | |
ENST00000621756.1:c.1572del | ENSP00000479467.1:p.Leu525Ter | |
NM_182919.3:c.2070del , LRG_358t1:c.2070del | NP_891549.1:p.Leu691Ter | |
NM_001385678.1:c.2028del | NP_001372607.1:p.Leu677Ter | |
NM_001385679.1:c.1935del | NP_001372608.1:p.Leu646Ter | |
NM_001385680.1:c.1428del | NP_001372609.1:p.Leu477Ter | |
NM_182919.4:c.2070del MANE Select | NP_891549.1:p.Leu691Ter |