HGVS | Genome Assembly |
---|---|
NC_000008.11:g.30786224_30786225del , CM000670.2:g.30786224_30786225del | GRCh38 |
NC_000008.10:g.30643740_30643741del , CM000670.1:g.30643740_30643741del | GRCh37 |
NC_000008.9:g.30763282_30763283del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000221138.9:c.*11_*12del MANE Select | ENSP00000221138.4:n.*11_*12del | |
ENST00000221138.8:c.*11_*12del | ENSP00000221138.4:n.*11_*12del | |
ENST00000518532.1:n.451_452del | ||
ENST00000518564.1:c.142-235_142-234del | ENSP00000428142.1:n.142-235_142-234del | |
ENST00000522113.1:n.141_142del | ||
ENST00000523023.1:c.168_169del | ||
NM_001009552.1:c.*11_*12del | NP_001009552.1:n.*11_*12del | |
NM_001009552.2:c.*11_*12del MANE Select | NP_001009552.1:n.*11_*12del |