Linked Data
ClinVar Variation Id:
553655
ClinVar RCV Id:
RCV000669152
dbSNP Id:
rs1554748574
MyVariant Identifiers:
chr9:g.37432122dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37432122dup , CM000671.2:g.37432122dup | GRCh38 |
| NC_000009.11:g.37432119dup , CM000671.1:g.37432119dup | GRCh37 |
| NC_000009.10:g.37422119dup | NCBI36 |
| NG_008135.1:g.14413dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.849dup MANE Select | ENSP00000313432.6:p.Thr284AspfsTer28 | |
| ENST00000318158.10:c.849dup | ENSP00000313432.6:p.Thr284AspfsTer28 | |
| ENST00000460882.5:n.876dup | ||
| ENST00000480596.5:n.1550dup | ||
| ENST00000482603.1:n.302dup | ||
| ENST00000491488.5:n.554dup | ||
| ENST00000494290.1:c.*51+971dup | ENSP00000432021.1:n.*51+971dup | |
| ENST00000497693.1:n.4417dup | ||
| ENST00000512404.2:n.36dup | ||
| ENST00000607784.1:c.849dup | ENSP00000475569.1:p.Thr284AspfsTer? | |
| NM_012203.1:c.849dup | NP_036335.1:p.Thr284AspfsTer28 | |
| XM_005251631.1:c.528dup | XP_005251688.1:p.Thr177AspfsTer28 | |
| XM_011518073.1:c.447dup | XP_011516375.1:p.Thr150AspfsTer28 | |
| XM_017015320.2:c.849dup | XP_016870809.1:p.Thr284AspfsTer6 | |
| XM_017015321.2:c.849dup | XP_016870810.1:p.Thr284AspfsTer6 | |
| XM_017015323.2:c.447dup | XP_016870812.1:p.Thr150AspfsTer6 | |
| XM_024447716.1:c.1122dup | XP_024303484.1:p.Thr375AspfsTer6 | |
| XM_024447717.1:c.1122dup | XP_024303485.1:p.Thr375AspfsTer6 | |
| XR_002956828.1:n.1137dup | ||
| XR_002956829.1:n.1137dup | ||
| XR_002956830.1:n.2269dup | ||
| XR_002956831.1:n.1944dup | ||
| XR_002956832.1:n.1268dup | ||
| NM_012203.2:c.849dup MANE Select | NP_036335.1:p.Thr284AspfsTer28 |