HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152676058_152676063del , CM000669.2:g.152676058_152676063del | GRCh38 |
NC_000007.13:g.152373143_152373148del , CM000669.1:g.152373143_152373148del | GRCh37 |
NC_000007.12:g.152004076_152004081del | NCBI36 |
NG_027988.1:g.5103_5108del | |
NG_027988.2:g.5103_5108del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.-70_-65del | ENSP00000513758.1:n.-70_-65del | |
ENST00000698507.1:n.85_90del | ||
ENST00000359321.2:c.17_22del MANE Select | ENSP00000352271.1:p.His6_Ala8delinsPro | |
ENST00000359321.1:c.17_22del | ENSP00000352271.1:p.His6_Ala8delinsPro | |
NM_005431.1:c.17_22del | NP_005422.1:p.His6_Ala8delinsPro | |
NM_005431.2:c.17_22del MANE Select | NP_005422.1:p.His6_Ala8delinsPro |