Linked Data
gnomAD v4:
2-29071063-GAGCAGGTGCACTCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071064_29071078del , CM000664.2:g.29071064_29071078del | GRCh38 |
| NC_000002.11:g.29293930_29293944del , CM000664.1:g.29293930_29293944del | GRCh37 |
| NC_000002.10:g.29147434_29147448del | NCBI36 |
| NG_021427.1:g.8184_8198del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3184_3198del MANE Select | ENSP00000332809.4:p.Glu1062_Ala1066del | |
| ENST00000331664.5:c.3184_3198del | ENSP00000332809.4:p.Glu1062_Ala1066del | |
| NM_001029883.2:c.3184_3198del | NP_001025054.1:p.Glu1062_Ala1066del | |
| XM_011532826.1:c.3184_3198del | XP_011531128.1:p.Glu1062_Ala1066del | |
| XR_939901.1:n.185+1897_185+1911del | ||
| XR_939902.1:n.173+1909_173+1923del | ||
| NM_001029883.3:c.3184_3198del MANE Select | NP_001025054.1:p.Glu1062_Ala1066del |