HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173395_173396delinsGA , CM000678.2:g.173395_173396delinsGA | GRCh38 |
NC_000016.9:g.223394_223395delinsGA , CM000678.1:g.223394_223395delinsGA | GRCh37 |
NC_000016.8:g.163394_163395delinsGA | NCBI36 |
NG_000006.1:g.34258_34259delinsGA | |
NG_059186.1:g.1745_1746delinsGA | |
NG_059271.1:g.5549_5550delinsGA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.300+66_300+67delinsGA MANE Select | ENSP00000251595.6:n.300+66_300+67delinsGA | |
ENST00000251595.10:c.300+66_300+67delinsGA | ENSP00000251595.6:n.300+66_300+67delinsGA | |
ENST00000397806.1:c.204+66_204+67delinsGA | ENSP00000380908.1:n.204+66_204+67delinsGA | |
ENST00000482565.1:n.436+66_436+67delinsGA | ||
ENST00000484216.1:n.335_336delinsGA | ||
NM_000517.4:c.300+66_300+67delinsGA | NP_000508.1:n.300+66_300+67delinsGA | |
NM_000517.6:c.300+66_300+67delinsGA MANE Select | NP_000508.1:n.300+66_300+67delinsGA |