Linked Data
gnomAD v4:
2-29227056-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227060del , CM000664.2:g.29227060del | GRCh38 |
| NC_000002.11:g.29449926del , CM000664.1:g.29449926del | GRCh37 |
| NC_000002.10:g.29303430del | NCBI36 |
| NG_009445.1:g.699510del , LRG_488:g.699510del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2932del MANE Select | ENSP00000373700.3:p.Glu978LysfsTer2 | |
| ENST00000431873.6:c.98del | ||
| ENST00000389048.7:c.2932del | ENSP00000373700.3:p.Glu978LysfsTer2 | |
| ENST00000618119.4:c.1801del | ENSP00000482733.1:p.Glu601LysfsTer2 | |
| NM_004304.4:c.2932del | NP_004295.2:p.Glu978LysfsTer2 | |
| XM_024452778.1:c.85del | XP_024308546.1:p.Glu29LysfsTer2 | |
| XR_001738688.2:n.3788del | ||
| NM_004304.5:c.2932del MANE Select | NP_004295.2:p.Glu978LysfsTer2 |