Linked Data
ClinVar Variation Id:
932821
ClinVar RCV Id:
RCV001200773
dbSNP Id:
rs2071341157
gnomAD v4:
17-7223741-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223743dup , CM000679.2:g.7223743dup | GRCh38 |
| NC_000017.10:g.7127062dup , CM000679.1:g.7127062dup | GRCh37 |
| NC_000017.9:g.7067786dup | NCBI36 |
| NG_007975.1:g.8910dup | |
| NG_008391.2:g.1309dup | |
| NG_033038.1:g.15803dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1269+13dup MANE Select | ENSP00000349297.5:n.1269+13dup | |
| ENST00000322910.9:c.*1224+13dup | ENSP00000325395.5:n.*1224+13dup | |
| ENST00000350303.9:c.1203+13dup | ENSP00000344152.5:n.1203+13dup | |
| ENST00000356839.9:c.1269+13dup | ENSP00000349297.5:n.1269+13dup | |
| ENST00000542255.6:c.127+13dup | ||
| ENST00000543245.6:c.1338+13dup | ENSP00000438689.2:n.1338+13dup | |
| ENST00000578579.2:n.440+13dup | ||
| ENST00000578711.1:n.239dup | ||
| ENST00000578824.5:n.685+13dup | ||
| ENST00000579425.5:n.293+13dup | ||
| ENST00000579546.1:c.106+13dup | ||
| ENST00000583850.5:n.44+13dup | ||
| ENST00000583858.5:c.298+13dup | ||
| ENST00000585203.6:n.477+13dup | ||
| NM_000018.3:c.1269+13dup | NP_000009.1:n.1269+13dup | |
| NM_001033859.2:c.1203+13dup | NP_001029031.1:n.1203+13dup | |
| NM_001270447.1:c.1338+13dup | NP_001257376.1:n.1338+13dup | |
| NM_001270448.1:c.1041+13dup | NP_001257377.1:n.1041+13dup | |
| XM_006721516.2:c.1269+13dup | XP_006721579.2:n.1269+13dup | |
| XM_011523829.1:c.1269+13dup | XP_011522131.1:n.1269+13dup | |
| XM_011523830.1:c.1269+13dup | XP_011522132.1:n.1269+13dup | |
| XR_934021.1:n.1376+13dup | ||
| XR_934022.1:n.1376+13dup | ||
| XR_934023.1:n.1376+13dup | ||
| XM_006721516.3:c.1269+13dup | XP_006721579.2:n.1269+13dup | |
| XM_011523829.2:c.1269+13dup | XP_011522131.1:n.1269+13dup | |
| XM_011523830.2:c.1269+13dup | XP_011522132.1:n.1269+13dup | |
| XM_024450741.1:c.1269+13dup | XP_024306509.1:n.1269+13dup | |
| XR_934021.2:n.1328+13dup | ||
| XR_934022.2:n.1328+13dup | ||
| XR_934023.2:n.1328+13dup | ||
| NM_000018.4:c.1269+13dup MANE Select | NP_000009.1:n.1269+13dup | |
| NM_001033859.3:c.1203+13dup | NP_001029031.1:n.1203+13dup | |
| NM_001270447.2:c.1338+13dup | NP_001257376.1:n.1338+13dup | |
| NM_001270448.2:c.1041+13dup | NP_001257377.1:n.1041+13dup |