HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256269_34256270insTA , CM000679.2:g.34256269_34256270insTA | GRCh38 |
NC_000017.10:g.32583288_32583289insTA , CM000679.1:g.32583288_32583289insTA | GRCh37 |
NC_000017.9:g.29607401_29607402insTA | NCBI36 |
NG_012123.1:g.5993_5994insTA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000580907.6:c.124_125insTA | ENSP00000462156.1:p.Lys42IlefsTer24 | |
ENST00000624362.2:n.985_986insTA | ||
ENST00000225831.4:c.124_125insTA MANE Select | ENSP00000225831.4:p.Lys42IlefsTer24 | |
ENST00000580907.5:c.124_125insTA | ENSP00000462156.1:p.Lys42IlefsTer24 | |
ENST00000582017.1:n.62_63insTA | ||
NM_002982.3:c.124_125insTA | NP_002973.1:p.Lys42IlefsTer24 | |
NM_002982.4:c.124_125insTA MANE Select | NP_002973.1:p.Lys42IlefsTer24 |