Linked Data
dbSNP Id:
rs34765294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071248_29071249insA , CM000664.2:g.29071248_29071249insA | GRCh38 |
| NC_000002.11:g.29294114_29294115insA , CM000664.1:g.29294114_29294115insA | GRCh37 |
| NC_000002.10:g.29147618_29147619insA | NCBI36 |
| NG_021427.1:g.8013_8014insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3013_3014insT MANE Select | ENSP00000332809.4:p.Ala1005ValfsTer? | |
| ENST00000331664.5:c.3013_3014insT | ENSP00000332809.4:p.Ala1005ValfsTer? | |
| NM_001029883.2:c.3013_3014insT | NP_001025054.1:p.Ala1005ValfsTer? | |
| XM_011532826.1:c.3013_3014insT | XP_011531128.1:p.Ala1005ValfsTer? | |
| XR_939901.1:n.185+2081_185+2082insA | ||
| XR_939902.1:n.173+2093_173+2094insA | ||
| NM_001029883.3:c.3013_3014insT MANE Select | NP_001025054.1:p.Ala1005ValfsTer? |