HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95324434_95324435del , CM000669.2:g.95324434_95324435del | GRCh38 |
NC_000007.13:g.94953746_94953747del , CM000669.1:g.94953746_94953747del | GRCh37 |
NC_000007.12:g.94791682_94791683del | NCBI36 |
NG_008779.1:g.5138_5139del | |
NG_008779.2:g.5272_5273del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222381.8:c.41_42del MANE Select | ENSP00000222381.3:p.Leu14ArgfsTer15 | |
ENST00000222381.7:c.41_42del | ENSP00000222381.3:p.Leu14ArgfsTer15 | |
ENST00000433729.1:c.41_42del | ENSP00000407359.1:p.Leu14ArgfsTer15 | |
NM_000446.5:c.41_42del | NP_000437.3:p.Leu14ArgfsTer15 | |
NM_000446.6:c.41_42del | NP_000437.3:p.Leu14ArgfsTer15 | |
NM_000446.7:c.41_42del MANE Select | NP_000437.3:p.Leu14ArgfsTer15 |