HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135851132_135851133del , CM000664.2:g.135851132_135851133del | GRCh38 |
NC_000002.11:g.136608702_136608703del , CM000664.1:g.136608702_136608703del | GRCh37 |
NC_000002.10:g.136325172_136325173del | NCBI36 |
NG_008104.2:g.9038_9039del , LRG_338:g.9038_9039del | |
NG_008958.1:g.30310_30311del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264156.3:c.1917+270_1917+271del MANE Select | ENSP00000264156.2:n.1917+270_1917+271del | |
ENST00000264156.2:c.1917+270_1917+271del | ENSP00000264156.2:n.1917+270_1917+271del | |
ENST00000483902.1:n.544+270_544+271del | ||
ENST00000492091.1:n.343+270_343+271del | ||
NM_005915.5:c.1917+270_1917+271del | NP_005906.2:n.1917+270_1917+271del | |
NM_005915.6:c.1917+270_1917+271del MANE Select | NP_005906.2:n.1917+270_1917+271del |