HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48494154del , CM000677.2:g.48494154del | GRCh38 |
NC_000015.9:g.48786351del , CM000677.1:g.48786351del | GRCh37 |
NC_000015.8:g.46573643del | NCBI36 |
NG_008805.2:g.156637del , LRG_778:g.156637del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.2728+52del | ENSP00000453958.2:n.2728+52del | |
ENST00000674301.2:c.2728+52del | ENSP00000501333.2:n.2728+52del | |
ENST00000684448.1:n.1402+52del | ||
ENST00000316623.10:c.2728+52del MANE Select | ENSP00000325527.5:n.2728+52del | |
ENST00000316623.9:c.2728+52del | ENSP00000325527.5:n.2728+52del | |
ENST00000537463.6:c.637-19502del | ENSP00000440294.2:n.637-19502del | |
NM_000138.4:c.2728+52del , LRG_778t1:c.2728+52del | NP_000129.3:n.2728+52del | |
NM_000138.5:c.2728+52del MANE Select | NP_000129.3:n.2728+52del |