Linked Data
gnomAD v4:
14-23421044-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23421047_23421048del , CM000676.2:g.23421047_23421048del | GRCh38 |
| NC_000014.8:g.23890256_23890257del , CM000676.1:g.23890256_23890257del | GRCh37 |
| NC_000014.7:g.22960096_22960097del | NCBI36 |
| NG_007884.1:g.19616_19617del , LRG_384:g.19616_19617del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3248_3249del MANE Select | ENSP00000347507.3:p.Lys1083ArgfsTer3 | |
| ENST00000355349.3:c.3248_3249del | ENSP00000347507.3:p.Lys1083ArgfsTer3 | |
| NM_000257.3:c.3248_3249del | NP_000248.2:p.Lys1083ArgfsTer3 | |
| XR_245686.3:n.3356_3357del | ||
| XM_017021340.1:c.3248_3249del | XP_016876829.1:p.Lys1083ArgfsTer3 | |
| NM_000257.4:c.3248_3249del MANE Select | NP_000248.2:p.Lys1083ArgfsTer3 |