Linked Data
dbSNP Id:
rs776929266
gnomAD v2:
8-11421808-T-TA
gnomAD v3:
8-11564299-T-TA
gnomAD v4:
8-11564299-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11564300dup , CM000670.2:g.11564300dup | GRCh38 |
| NC_000008.10:g.11421809dup , CM000670.1:g.11421809dup | GRCh37 |
| NC_000008.9:g.11459218dup | NCBI36 |
| NG_023543.1:g.75289dup | |
| NG_023543.2:g.75289dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.1818dup | ||
| ENST00000696154.1:c.*1028dup | ENSP00000512445.1:n.*1028dup | |
| ENST00000696155.1:n.594dup | ||
| ENST00000259089.9:c.*192dup MANE Select | ENSP00000259089.4:n.*192dup | |
| ENST00000645242.1:c.*192dup | ENSP00000494690.1:n.*192dup | |
| ENST00000259089.8:c.*192dup | ENSP00000259089.4:n.*192dup | |
| ENST00000526097.1:n.1650dup | ||
| ENST00000529894.1:c.*192dup | ENSP00000433663.1:n.*192dup | |
| NM_001715.2:c.*192dup | NP_001706.2:n.*192dup | |
| XM_011543824.1:c.*192dup | XP_011542126.1:n.*192dup | |
| XM_011543825.1:c.*192dup | XP_011542127.1:n.*192dup | |
| XM_011543826.1:c.*192dup | XP_011542128.1:n.*192dup | |
| XM_011543827.1:c.*192dup | XP_011542129.1:n.*192dup | |
| NM_001330465.1:c.*192dup | NP_001317394.1:n.*192dup | |
| XM_011543825.3:c.*192dup | XP_011542127.1:n.*192dup | |
| NM_001715.3:c.*192dup MANE Select | NP_001706.2:n.*192dup | |
| NM_001330465.2:c.*192dup | NP_001317394.1:n.*192dup |