Linked Data
ClinVar Variation Id:
372345
ClinVar RCV Id:
RCV000413123
RCV000454227
RCV001272346
RCV001266180
RCV001352936
RCV002244860
RCV003156091
RCV003972555
RCV002502441
dbSNP Id:
rs768128088
ExAC:
3:48611297 A / AG
gnomAD v2:
3-48611297-A-AG
gnomAD v3:
3-48573864-A-AG
gnomAD v4:
3-48573864-A-AG
COSMIC:
COSM4584429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48573870dup , CM000665.2:g.48573870dup | GRCh38 |
| NC_000003.11:g.48611303dup , CM000665.1:g.48611303dup | GRCh37 |
| NC_000003.10:g.48586307dup | NCBI36 |
| NG_007065.1:g.26388dup , LRG_286:g.26388dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.6527dup MANE Select | ENSP00000506558.1:p.Gly2177TrpfsTer? | |
| ENST00000328333.12:c.6527dup | ENSP00000332371.8:p.Gly2177TrpfsTer? | |
| ENST00000487017.5:n.2444dup | ||
| NM_000094.3:c.6527dup , LRG_286t1:c.6527dup | NP_000085.1:p.Gly2177TrpfsTer? | |
| XM_011533336.1:c.6554dup | XP_011531638.1:p.Gly2186TrpfsTer? | |
| XM_011533337.1:c.6527dup | XP_011531639.1:p.Gly2177TrpfsTer? | |
| XM_011533338.1:c.6554dup | XP_011531640.1:p.Gly2186TrpfsTer? | |
| XM_011533339.1:c.6554dup | XP_011531641.1:p.Gly2186TrpfsTer? | |
| XM_011533340.1:c.6554dup | XP_011531642.1:p.Gly2186TrpfsTer? | |
| XM_011533341.1:c.6554dup | XP_011531643.1:p.Gly2186TrpfsTer? | |
| XM_011533342.1:c.6554dup | XP_011531644.1:p.Gly2186TrpfsTer? | |
| XR_940369.1:n.6590dup | ||
| XR_940370.1:n.6590dup | ||
| XR_940371.1:n.6590dup | ||
| XR_940372.1:n.6590dup | ||
| XR_940373.1:n.6590dup | ||
| XR_940374.1:n.6590dup | ||
| XM_017005688.1:c.6527dup | XP_016861177.1:p.Gly2177TrpfsTer? | |
| XM_017005689.1:c.6527dup | XP_016861178.1:p.Gly2177TrpfsTer? | |
| XM_017005690.1:c.6527dup | XP_016861179.1:p.Gly2177TrpfsTer? | |
| XM_017005691.1:c.6527dup | XP_016861180.1:p.Gly2177TrpfsTer? | |
| XM_017005692.1:c.6527dup | XP_016861181.1:p.Gly2177TrpfsTer? | |
| XR_001740003.1:n.6563dup | ||
| XR_001740004.1:n.6563dup | ||
| XR_001740005.1:n.6563dup | ||
| XR_001740006.1:n.6563dup | ||
| XR_001740007.1:n.6563dup | ||
| XR_001740008.1:n.6563dup | ||
| NM_000094.4:c.6527dup MANE Select | NP_000085.1:p.Gly2177TrpfsTer? |