HGVS | Genome Assembly |
---|---|
NC_000001.11:g.147908347_147908349del , CM000663.2:g.147908347_147908349del | GRCh38 |
NC_000001.10:g.147380474_147380476del , CM000663.1:g.147380474_147380476del | GRCh37 |
NC_000001.9:g.145847098_145847100del | NCBI36 |
NG_016242.1:g.10529_10531del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369235.2:c.392_394del MANE Select | ENSP00000358238.1:p.Lys131del | |
ENST00000369235.1:c.392_394del | ENSP00000358238.1:p.Lys131del | |
NM_005267.4:c.392_394del | NP_005258.2:p.Lys131del | |
XM_011509416.1:c.392_394del | XP_011507718.1:p.Lys131del | |
XM_011509417.1:c.392_394del | XP_011507719.1:p.Lys131del | |
XM_011509417.2:c.392_394del | XP_011507719.1:p.Lys131del | |
XR_002956281.1:n.1307_1309del | ||
NM_005267.5:c.392_394del MANE Select | NP_005258.2:p.Lys131del |