Linked Data
gnomAD v4:
6-31271242-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271243del , CM000668.2:g.31271243del | GRCh38 |
| NC_000006.11:g.31239020del , CM000668.1:g.31239020del | GRCh37 |
| NC_000006.10:g.31346999del | NCBI36 |
| NG_029422.2:g.5889del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.449del MANE Select | ENSP00000365402.5:p.Leu150ArgfsTer? | |
| ENST00000376228.9:c.449del | ENSP00000365402.5:p.Leu150ArgfsTer? | |
| ENST00000376237.8:c.*36del | ENSP00000365412.4:n.*36del | |
| ENST00000383329.7:c.449del | ENSP00000372819.3:p.Leu150ArgfsTer? | |
| ENST00000415537.1:c.447del | ||
| ENST00000484378.1:n.718del | ||
| ENST00000487245.5:n.808del | ||
| ENST00000495835.1:n.638del | ||
| NM_002117.5:c.449del | NP_002108.4:p.Leu150ArgfsTer? | |
| NM_002117.6:c.449del MANE Select | NP_002108.4:p.Leu150ArgfsTer? |