HGVS | Genome Assembly |
---|---|
NC_000019.10:g.33302026_33302397del , CM000681.2:g.33302026_33302397del | GRCh38 |
NC_000019.9:g.33792932_33793303del , CM000681.1:g.33792932_33793303del | GRCh37 |
NC_000019.8:g.38484772_38485143del | NCBI36 |
NG_012022.1:g.5133_5504del , LRG_456:g.5133_5504del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000498907.3:c.23_394del MANE Select | ENSP00000427514.1:p.Glu8_Tyr131del | |
ENST00000498907.2:c.23_394del | ENSP00000427514.1:p.Glu8_Tyr131del | |
NM_001285829.1:c.-335_37del | ||
NM_001287424.1:c.128_499del | NP_001274353.1:p.Glu43_Tyr166del | |
NM_001287435.1:c.-20_352del | ||
NM_004364.4:c.23_394del | NP_004355.2:p.Glu8_Tyr131del | |
NM_001287424.2:c.128_499del | NP_001274353.1:p.Glu43_Tyr166del | |
NM_004364.5:c.23_394del MANE Select | NP_004355.2:p.Glu8_Tyr131del | |
NM_001285829.2:c.-335_37del | ||
NM_001287435.2:c.-20_352del |