Linked Data
ClinVar Variation Id:
203592
dbSNP Id:
rs796051916
ExAC:
17:7127327 T / TC
gnomAD v2:
17-7127327-T-TC
gnomAD v4:
17-7224008-T-TC
MyVariant Identifiers:
chr17:g.7127329dup (hg19)
chr17:g.7127327_7127328insC (hg19)
chr17:g.7224010dupC (hg38)
chr17:g.7224008_7224009insC (hg38)
ERepo:
CA312288/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224010dup , CM000679.2:g.7224010dup | GRCh38 |
| NC_000017.10:g.7127329dup , CM000679.1:g.7127329dup | GRCh37 |
| NC_000017.9:g.7068053dup | NCBI36 |
| NG_007975.1:g.9177dup | |
| NG_008391.2:g.1042dup | |
| NG_033038.1:g.15536dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1375dup MANE Select | ENSP00000349297.5:p.Arg459ProfsTer4 | |
| ENST00000322910.9:c.*1330dup | ENSP00000325395.5:n.*1330dup | |
| ENST00000350303.9:c.1309dup | ENSP00000344152.5:p.Arg437ProfsTer4 | |
| ENST00000356839.9:c.1375dup | ENSP00000349297.5:p.Arg459ProfsTer4 | |
| ENST00000542255.6:c.233dup | ||
| ENST00000543245.6:c.1444dup | ENSP00000438689.2:p.Arg482ProfsTer4 | |
| ENST00000578711.1:n.506dup | ||
| ENST00000579425.5:n.491dup | ||
| ENST00000579546.1:c.212dup | ||
| ENST00000579894.5:n.86dup | ||
| ENST00000583074.5:n.94dup | ||
| ENST00000583850.5:n.150dup | ||
| ENST00000583858.5:c.404dup | ||
| ENST00000585203.6:n.566dup | ||
| NM_000018.3:c.1375dup | NP_000009.1:p.Arg459ProfsTer4 | |
| NM_001033859.2:c.1309dup | NP_001029031.1:p.Arg437ProfsTer4 | |
| NM_001270447.1:c.1444dup | NP_001257376.1:p.Arg482ProfsTer4 | |
| NM_001270448.1:c.1147dup | NP_001257377.1:p.Arg383ProfsTer4 | |
| XM_006721516.2:c.1375dup | XP_006721579.2:p.Arg459ProfsTer4 | |
| XM_011523829.1:c.1375dup | XP_011522131.1:p.Arg459ProfsTer4 | |
| XM_011523830.1:c.1375dup | XP_011522132.1:p.Arg459ProfsTer4 | |
| XR_934021.1:n.1482dup | ||
| XR_934022.1:n.1482dup | ||
| XR_934023.1:n.1482dup | ||
| XM_006721516.3:c.1375dup | XP_006721579.2:p.Arg459ProfsTer4 | |
| XM_011523829.2:c.1375dup | XP_011522131.1:p.Arg459ProfsTer4 | |
| XM_011523830.2:c.1375dup | XP_011522132.1:p.Arg459ProfsTer4 | |
| XM_024450741.1:c.1375dup | XP_024306509.1:p.Arg459ProfsTer4 | |
| XR_934021.2:n.1434dup | ||
| XR_934022.2:n.1434dup | ||
| XR_934023.2:n.1434dup | ||
| NM_000018.4:c.1375dup MANE Select | NP_000009.1:p.Arg459ProfsTer4 | |
| NM_001033859.3:c.1309dup | NP_001029031.1:p.Arg437ProfsTer4 | |
| NM_001270447.2:c.1444dup | NP_001257376.1:p.Arg482ProfsTer4 | |
| NM_001270448.2:c.1147dup | NP_001257377.1:p.Arg383ProfsTer4 |