HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154860440del , CM000685.2:g.154860440del | GRCh38 |
NC_000023.10:g.154088715del , CM000685.1:g.154088715del | GRCh37 |
NC_000023.9:g.153741909del | NCBI36 |
NG_011403.1:g.167286del | |
NG_011403.2:g.167286del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6894del MANE Select | ENSP00000353393.4:p.Val2299Ter | |
ENST00000644698.1:c.627del | ENSP00000495706.1:p.Val210Ter | |
ENST00000330287.10:c.489del | ENSP00000327895.6:p.Val164Ter | |
ENST00000360256.8:c.6894del | ENSP00000353393.4:p.Val2299Ter | |
NM_000132.3:c.6894del | NP_000123.1:p.Val2299Ter | |
NM_019863.2:c.489del | NP_063916.1:p.Val164Ter | |
XM_011531126.1:c.6789del | XP_011529428.1:p.Val2264Ter | |
NM_000132.4:c.6894del MANE Select | NP_000123.1:p.Val2299Ter | |
NM_019863.3:c.489del | NP_063916.1:p.Val164Ter |