HGVS | Genome Assembly |
---|---|
NC_000007.14:g.93104023_93104026del , CM000669.2:g.93104023_93104026del | GRCh38 |
NC_000007.13:g.92733336_92733339del , CM000669.1:g.92733336_92733339del | GRCh37 |
NC_000007.12:g.92571272_92571275del | NCBI36 |
NG_023419.1:g.18999_19002del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379958.3:c.2073_2076del MANE Select | ENSP00000369292.2:p.Trp691Ter | |
ENST00000379958.2:c.2073_2076del | ENSP00000369292.2:p.Trp691Ter | |
ENST00000446617.1:c.2073_2076del | ENSP00000414529.1:p.Trp691Ter | |
ENST00000620985.4:c.2073_2076del | ENSP00000484636.1:p.Trp691Ter | |
NM_001193307.1:c.2073_2076del | NP_001180236.1:p.Trp691Ter | |
NM_017654.3:c.2073_2076del | NP_060124.2:p.Trp691Ter | |
NM_017654.4:c.2073_2076del MANE Select | NP_060124.2:p.Trp691Ter | |
NM_001193307.2:c.2073_2076del | NP_001180236.1:p.Trp691Ter |