Linked Data
gnomAD v4:
9-98542138-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542140del , CM000671.2:g.98542140del | GRCh38 |
| NC_000009.11:g.101304422del , CM000671.1:g.101304422del | GRCh37 |
| NC_000009.10:g.100344243del | NCBI36 |
| NG_016426.1:g.172059del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.460-96del MANE Select | ENSP00000259455.2:n.460-96del | |
| ENST00000637410.1:n.238-96del | ||
| ENST00000637717.1:c.76-96del | ENSP00000490789.1:n.76-96del | |
| ENST00000638001.1:n.70-96del | ||
| ENST00000259455.3:c.460-96del | ENSP00000259455.2:n.460-96del | |
| ENST00000477471.1:n.247-96del | ||
| ENST00000634227.1:n.234-96del | ||
| NM_005458.7:c.460-96del | NP_005449.5:n.460-96del | |
| XM_017015331.2:c.166-96del | XP_016870820.1:n.166-96del | |
| NM_005458.8:c.460-96del MANE Select | NP_005449.5:n.460-96del |