Linked Data
ClinVar Variation Id:
552450
ClinVar RCV Id:
RCV000667710
dbSNP Id:
rs1555528508
MyVariant Identifiers:
chr17:g.7222831_7222853dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222831_7222853dup , CM000679.2:g.7222831_7222853dup | GRCh38 |
| NC_000017.10:g.7126150_7126172dup , CM000679.1:g.7126150_7126172dup | GRCh37 |
| NC_000017.9:g.7066874_7066896dup | NCBI36 |
| NG_007975.1:g.7998_8020dup | |
| NG_008391.2:g.2199_2221dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1043_1065dup MANE Select | ENSP00000349297.5:p.Ile356TrpfsTer5 | |
| ENST00000322910.9:c.*998_*1020dup | ENSP00000325395.5:n.*998_*1020dup | |
| ENST00000350303.9:c.977_999dup | ENSP00000344152.5:p.Ile334TrpfsTer5 | |
| ENST00000356839.9:c.1043_1065dup | ENSP00000349297.5:p.Ile356TrpfsTer5 | |
| ENST00000543245.6:c.1112_1134dup | ENSP00000438689.2:p.Ile379TrpfsTer5 | |
| ENST00000578824.5:n.192_214dup | ||
| ENST00000582379.1:n.427_449dup | ||
| ENST00000583858.5:c.72_94dup | ||
| NM_000018.3:c.1043_1065dup | NP_000009.1:p.Ile356TrpfsTer5 | |
| NM_001033859.2:c.977_999dup | NP_001029031.1:p.Ile334TrpfsTer5 | |
| NM_001270447.1:c.1112_1134dup | NP_001257376.1:p.Ile379TrpfsTer5 | |
| NM_001270448.1:c.815_837dup | NP_001257377.1:p.Ile280TrpfsTer5 | |
| XM_006721516.2:c.1043_1065dup | XP_006721579.2:p.Ile356TrpfsTer5 | |
| XM_011523829.1:c.1043_1065dup | XP_011522131.1:p.Ile356TrpfsTer5 | |
| XM_011523830.1:c.1043_1065dup | XP_011522132.1:p.Ile356TrpfsTer5 | |
| XR_934021.1:n.1150_1172dup | ||
| XR_934022.1:n.1150_1172dup | ||
| XR_934023.1:n.1150_1172dup | ||
| XM_006721516.3:c.1043_1065dup | XP_006721579.2:p.Ile356TrpfsTer5 | |
| XM_011523829.2:c.1043_1065dup | XP_011522131.1:p.Ile356TrpfsTer5 | |
| XM_011523830.2:c.1043_1065dup | XP_011522132.1:p.Ile356TrpfsTer5 | |
| XM_024450741.1:c.1043_1065dup | XP_024306509.1:p.Ile356TrpfsTer5 | |
| XR_934021.2:n.1102_1124dup | ||
| XR_934022.2:n.1102_1124dup | ||
| XR_934023.2:n.1102_1124dup | ||
| NM_000018.4:c.1043_1065dup MANE Select | NP_000009.1:p.Ile356TrpfsTer5 | |
| NM_001033859.3:c.977_999dup | NP_001029031.1:p.Ile334TrpfsTer5 | |
| NM_001270447.2:c.1112_1134dup | NP_001257376.1:p.Ile379TrpfsTer5 | |
| NM_001270448.2:c.815_837dup | NP_001257377.1:p.Ile280TrpfsTer5 |