Linked Data
gnomAD v4:
2-29071236-CGCCTCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071238_29071244del , CM000664.2:g.29071238_29071244del | GRCh38 |
| NC_000002.11:g.29294104_29294110del , CM000664.1:g.29294104_29294110del | GRCh37 |
| NC_000002.10:g.29147608_29147614del | NCBI36 |
| NG_021427.1:g.8019_8025del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3019_3025del MANE Select | ENSP00000332809.4:p.Lys1007AlafsTer26 | |
| ENST00000331664.5:c.3019_3025del | ENSP00000332809.4:p.Lys1007AlafsTer26 | |
| NM_001029883.2:c.3019_3025del | NP_001025054.1:p.Lys1007AlafsTer26 | |
| XM_011532826.1:c.3019_3025del | XP_011531128.1:p.Lys1007AlafsTer26 | |
| XR_939901.1:n.185+2071_185+2077del | ||
| XR_939902.1:n.173+2083_173+2089del | ||
| NM_001029883.3:c.3019_3025del MANE Select | NP_001025054.1:p.Lys1007AlafsTer26 |