Linked Data
gnomAD v4:
17-4934060-TCACTCTTAGAATC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4934064_4934076del , CM000679.2:g.4934064_4934076del | GRCh38 |
| NC_000017.10:g.4837359_4837371del , CM000679.1:g.4837359_4837371del | GRCh37 |
| NC_000017.9:g.4778100_4778112del | NCBI36 |
| NG_008767.2:g.6770_6782del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1460_1472del (GP1BA) MANE Select | ENSP00000329380.5:p.Leu487ProfsTer? | |
| ENST00000649830.1:c.-888+269_-888+281del (CHRNE) | ENSP00000496907.1:n.-888+269_-888+281del | |
| ENST00000329125.5:c.1460_1472del (GP1BA) | ENSP00000329380.5:p.Leu487ProfsTer? | |
| ENST00000611961.1:c.1382_1394del (GP1BA) | ENSP00000484439.1:p.Leu461ProfsTer? | |
| NM_000173.6:c.1460_1472del (GP1BA) | NP_000164.5:p.Leu487ProfsTer? | |
| NM_000173.7:c.1460_1472del (GP1BA) MANE Select | NP_000164.5:p.Leu487ProfsTer? |