Linked Data
ClinVar Variation Id:
2186128
ClinVar RCV Id:
RCV002620031
dbSNP Id:
rs1416324075
gnomAD v3:
9-34489332-T-TA
gnomAD v4:
9-34489332-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34489333dup , CM000671.2:g.34489333dup | GRCh38 |
| NC_000009.11:g.34489331dup , CM000671.1:g.34489331dup | GRCh37 |
| NC_000009.10:g.34479331dup | NCBI36 |
| NG_008127.1:g.35521dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.272dup MANE Select | ENSP00000242317.4:p.Tyr91Ter | |
| ENST00000242317.8:c.272dup | ENSP00000242317.4:p.Tyr91Ter | |
| ENST00000437363.5:c.239dup | ENSP00000395396.1:p.Tyr80Ter | |
| ENST00000488369.1:n.388dup | ||
| ENST00000614641.4:c.272dup | ENSP00000480538.1:p.Tyr91Ter | |
| NM_001281428.1:c.272dup | NP_001268357.1:p.Tyr91Ter | |
| NM_012144.3:c.272dup | NP_036276.1:p.Tyr91Ter | |
| XM_011517846.1:c.272dup | XP_011516148.1:p.Tyr91Ter | |
| XM_011517847.1:c.272dup | XP_011516149.1:p.Tyr91Ter | |
| XM_011517848.1:c.272dup | XP_011516150.1:p.Tyr91Ter | |
| XM_011517849.1:c.272dup | XP_011516151.1:p.Tyr91Ter | |
| XM_011517850.1:c.272dup | XP_011516152.1:p.Tyr91Ter | |
| XR_929232.1:n.526dup | ||
| XR_929233.1:n.526dup | ||
| XR_929235.1:n.526dup | ||
| XM_006716758.3:c.-205dup | XP_006716821.1:n.-205dup | |
| XM_011517846.2:c.272dup | XP_011516148.1:p.Tyr91Ter | |
| XM_011517847.3:c.272dup | XP_011516149.1:p.Tyr91Ter | |
| XM_011517848.2:c.272dup | XP_011516150.1:p.Tyr91Ter | |
| XM_011517849.2:c.272dup | XP_011516151.1:p.Tyr91Ter | |
| XM_011517850.3:c.272dup | XP_011516152.1:p.Tyr91Ter | |
| XM_017014625.2:c.272dup | XP_016870114.1:p.Tyr91Ter | |
| XR_002956774.1:n.473dup | ||
| XR_929232.2:n.473dup | ||
| XR_929233.2:n.473dup | ||
| NM_012144.4:c.272dup MANE Select | NP_036276.1:p.Tyr91Ter | |
| NM_001281428.2:c.272dup | NP_001268357.1:p.Tyr91Ter |