Linked Data
gnomAD v4:
9-128946016-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128946019_128946021del , CM000671.2:g.128946019_128946021del | GRCh38 |
| NC_000009.11:g.131708298_131708300del , CM000671.1:g.131708298_131708300del | GRCh37 |
| NC_000009.10:g.130748119_130748121del | NCBI36 |
| NG_017009.1:g.6715_6717del , LRG_744:g.6715_6717del | |
| NG_033111.1:g.3327_3329del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1285_1287del MANE Select | ENSP00000361667.3:p.Lys429del | |
| ENST00000372586.3:c.1285_1287del | ENSP00000361667.3:p.Lys429del | |
| ENST00000482796.1:c.39-3170_39-3168del | ENSP00000417556.2:n.39-3170_39-3168del | |
| NM_014908.3:c.1285_1287del , LRG_744t1:c.1285_1287del | NP_055723.1:p.Lys429del | |
| NM_014908.4:c.1285_1287del MANE Select | NP_055723.1:p.Lys429del |