HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17027744del , CM000663.2:g.17027744del | GRCh38 |
NC_000001.10:g.17354239del , CM000663.1:g.17354239del | GRCh37 |
NC_000001.9:g.17226826del | NCBI36 |
NG_012340.1:g.31428del , LRG_316:g.31428del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.369+6del | ENSP00000481376.2:n.369+6del | |
ENST00000491274.6:c.498+6del | ENSP00000480482.2:n.498+6del | |
ENST00000375499.8:c.540+6del MANE Select | ENSP00000364649.3:n.540+6del | |
ENST00000375499.7:c.540+6del | ENSP00000364649.3:n.540+6del | |
ENST00000475506.1:n.463del | ||
ENST00000485515.5:n.474+6del | ||
ENST00000491274.5:c.498+6del | ENSP00000480482.1:n.498+6del | |
NM_003000.2:c.540+6del , LRG_316t1:c.540+6del | NP_002991.2:n.540+6del | |
NM_003000.3:c.540+6del MANE Select | NP_002991.2:n.540+6del |