HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256495_34256503del , CM000679.2:g.34256495_34256503del | GRCh38 |
NC_000017.10:g.32583514_32583522del , CM000679.1:g.32583514_32583522del | GRCh37 |
NC_000017.9:g.29607627_29607635del | NCBI36 |
NG_012123.1:g.6219_6227del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580907.6:c.*152_*160del | ENSP00000462156.1:n.*152_*160del | |
ENST00000624362.2:n.1211_1219del | ||
ENST00000225831.4:c.194+156_194+164del MANE Select | ENSP00000225831.4:n.194+156_194+164del | |
ENST00000580907.5:c.*152_*160del | ENSP00000462156.1:n.*152_*160del | |
ENST00000582017.1:n.288_296del | ||
NM_002982.3:c.194+156_194+164del | NP_002973.1:n.194+156_194+164del | |
NM_002982.4:c.194+156_194+164del MANE Select | NP_002973.1:n.194+156_194+164del |