Linked Data
gnomAD v4:
18-13884671-AGCTCTGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884676_13884682del , CM000680.2:g.13884676_13884682del | GRCh38 |
| NC_000018.9:g.13884675_13884681del , CM000680.1:g.13884675_13884681del | GRCh37 |
| NC_000018.8:g.13874675_13874681del | NCBI36 |
| NG_011819.1:g.35859_35865del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327606.4:c.841_847del MANE Select | ENSP00000333821.2:p.Pro281SerfsTer8 | |
| ENST00000327606.3:c.841_847del | ENSP00000333821.2:p.Pro281SerfsTer8 | |
| NM_000529.2:c.841_847del MANE Select | NP_000520.1:p.Pro281SerfsTer8 | |
| NM_001291911.1:c.841_847del | NP_001278840.1:p.Pro281SerfsTer8 | |
| XM_017025781.1:c.841_847del | XP_016881270.1:p.Pro281SerfsTer8 |