HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107767858del , CM000669.2:g.107767858del | GRCh38 |
NC_000007.13:g.107408303del , CM000669.1:g.107408303del | GRCh37 |
NC_000007.12:g.107195539del | NCBI36 |
NG_008046.1:g.40379del , LRG_683:g.40379del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000340010.10:c.2116del MANE Select | ENSP00000345873.5:p.Ser706AlafsTer6 | |
ENST00000340010.9:c.2116del | ENSP00000345873.5:p.Ser706AlafsTer6 | |
ENST00000379083.7:c.*1673del | ENSP00000368375.3:n.*1673del | |
NM_000111.2:c.2116del , LRG_683t1:c.2116del | NP_000102.1:p.Ser706AlafsTer6 | |
XM_011515867.1:c.2116del | XP_011514169.1:p.Ser706AlafsTer6 | |
NM_000111.3:c.2116del MANE Select | NP_000102.1:p.Ser706AlafsTer6 |