HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320392_159320393del , CM000667.2:g.159320392_159320393del | GRCh38 |
NC_000005.9:g.158747400_158747401del , CM000667.1:g.158747400_158747401del | GRCh37 |
NC_000005.8:g.158679978_158679979del | NCBI36 |
NG_009618.1:g.15084_15085del , LRG_71:g.15084_15085del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-18_-17del | ENSP00000512849.1:n.-18_-17del | |
ENST00000696751.1:c.*108_*109del | ENSP00000512850.1:n.*108_*109del | |
ENST00000231228.3:c.613_614del MANE Select | ENSP00000231228.2:p.Leu206AlafsTer3 | |
ENST00000231228.2:c.613_614del | ENSP00000231228.2:p.Leu206AlafsTer3 | |
NM_002187.2:c.613_614del , LRG_71t1:c.613_614del | NP_002178.2:p.Leu206AlafsTer3 | |
NM_002187.3:c.613_614del MANE Select | NP_002178.2:p.Leu206AlafsTer3 |