HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4932547_4932548del , CM000679.2:g.4932547_4932548del | GRCh38 |
NC_000017.10:g.4835842_4835843del , CM000679.1:g.4835842_4835843del | GRCh37 |
NC_000017.9:g.4776622_4776623del | NCBI36 |
NG_008767.2:g.5253_5254del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329125.6:c.-6-52_-6-51del (GP1BA) MANE Select | ENSP00000329380.5:n.-6-52_-6-51del | |
ENST00000649830.1:c.-888+1798_-888+1799del (CHRNE) | ENSP00000496907.1:n.-888+1798_-888+1799del | |
ENST00000329125.5:c.-6-52_-6-51del (GP1BA) | ENSP00000329380.5:n.-6-52_-6-51del | |
ENST00000611961.1:c.-6-52_-6-51del (GP1BA) | ENSP00000484439.1:n.-6-52_-6-51del | |
NM_000173.6:c.-6-52_-6-51del (GP1BA) | NP_000164.5:n.-6-52_-6-51del | |
NM_000173.7:c.-6-52_-6-51del (GP1BA) MANE Select | NP_000164.5:n.-6-52_-6-51del |