HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232541236_232541251del , CM000664.2:g.232541236_232541251del | GRCh38 |
NC_000002.11:g.233405946_233405961del , CM000664.1:g.233405946_233405961del | GRCh37 |
NC_000002.10:g.233114190_233114205del | NCBI36 |
NG_012954.1:g.6510_6525del | |
NG_012954.2:g.6545_6560del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651502.1:c.351-138_351-123del MANE Select | ENSP00000498757.1:n.351-138_351-123del | |
ENST00000389492.3:c.350+525_350+540del | ENSP00000374143.3:n.350+525_350+540del | |
ENST00000389494.7:c.351-138_351-123del | ENSP00000374145.3:n.351-138_351-123del | |
ENST00000485094.1:n.372-138_372-123del | ||
NM_005199.4:c.351-138_351-123del | NP_005190.4:n.351-138_351-123del | |
NM_005199.5:c.351-138_351-123del MANE Select | NP_005190.4:n.351-138_351-123del |