Linked Data
gnomAD v4:
2-189004272-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189004274del , CM000664.2:g.189004274del | GRCh38 |
| NC_000002.11:g.189869000del , CM000664.1:g.189869000del | GRCh37 |
| NC_000002.10:g.189577245del | NCBI36 |
| NG_007404.1:g.34902del , LRG_3:g.34902del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2742del | ENSP00000415346.2:p.Ile916LeufsTer? | |
| ENST00000304636.9:c.2841del MANE Select | ENSP00000304408.4:p.Ile949LeufsTer? | |
| ENST00000304636.7:c.2841del | ENSP00000304408.3:p.Ile949LeufsTer? | |
| ENST00000317840.9:c.2527+1238del | ENSP00000315243.6:n.2527+1238del | |
| NM_000090.3:c.2841del , LRG_3t1:c.2841del | NP_000081.1:p.Ile949LeufsTer? | |
| NM_000090.4:c.2841del MANE Select | NP_000081.2:p.Ile949LeufsTer? |