Linked Data
dbSNP Id:
rs34918567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38421038dup , CM000685.2:g.38421038dup | GRCh38 |
| NC_000023.10:g.38280291dup , CM000685.1:g.38280291dup | GRCh37 |
| NC_000023.9:g.38165235dup | NCBI36 |
| NG_008471.1:g.73556dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.1021dup MANE Select | ENSP00000039007.4:p.Leu341ProfsTer13 | |
| ENST00000643344.1:c.*771dup | ENSP00000496606.1:n.*771dup | |
| ENST00000039007.4:c.1021dup | ENSP00000039007.4:p.Leu341ProfsTer13 | |
| ENST00000465127.1:c.172-245083dup | ENSP00000417050.1:n.172-245083dup | |
| NM_000531.5:c.1021dup | NP_000522.3:p.Leu341ProfsTer13 | |
| NM_000531.6:c.1021dup MANE Select | NP_000522.3:p.Leu341ProfsTer13 |