HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612313_41612321del , CM000679.2:g.41612313_41612321del | GRCh38 |
NC_000017.10:g.39768565_39768573del , CM000679.1:g.39768565_39768573del | GRCh37 |
NC_000017.9:g.37022091_37022099del | NCBI36 |
NG_008301.1:g.5510_5518del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301653.9:c.371_379del MANE Select | ENSP00000301653.3:p.Leu124_Asp126del | |
ENST00000301653.8:c.371_379del | ENSP00000301653.3:p.Leu124_Asp126del | |
ENST00000588319.1:n.448_456del | ||
ENST00000593067.1:c.-312-32_-312-24del | ENSP00000467124.1:n.-312-32_-312-24del | |
NM_005557.3:c.371_379del | NP_005548.2:p.Leu124_Asp126del | |
NM_005557.4:c.371_379del MANE Select | NP_005548.2:p.Leu124_Asp126del |