Linked Data
dbSNP Id:
rs34013532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585514dup , CM000665.2:g.98585514dup | GRCh38 |
| NC_000003.11:g.98304358dup , CM000665.1:g.98304358dup | GRCh37 |
| NC_000003.10:g.99787048dup | NCBI36 |
| NG_015994.1:g.13101dup | |
| NG_015994.2:g.13101dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.1102dup MANE Select | ENSP00000497326.1:p.Leu368ProfsTer7 | |
| ENST00000264193.2:c.1102dup | ENSP00000264193.2:p.Leu368ProfsTer7 | |
| ENST00000510489.1:n.352dup | ||
| NM_000097.5:c.1102dup | NP_000088.3:p.Leu368ProfsTer7 | |
| XM_005247125.3:c.1102dup | XP_005247182.1:p.Leu368ProfsTer7 | |
| NM_000097.7:c.1102dup MANE Select | NP_000088.3:p.Leu368ProfsTer7 | |
| XM_005247125.4:c.1102dup | XP_005247182.1:p.Leu368ProfsTer7 | |
| XR_001740025.2:n.1273dup | ||
| XR_001740026.1:n.1837dup | ||
| XR_001740027.1:n.1377dup | ||
| XR_001740028.1:n.1343dup |