Linked Data
ClinVar Variation Id:
16910
dbSNP Id:
rs786205875
ExAC:
7:75614450 G / GC
gnomAD v2:
7-75614450-G-GC
gnomAD v3:
7-75985132-G-GC
gnomAD v4:
7-75985132-G-GC
MyVariant Identifiers:
chr7:g.75614456dupC (hg19)
chr7:g.75614450_75614451insC (hg19)
chr7:g.75985138dupC (hg38)
chr7:g.75985132_75985133insC (hg38)
PubMed:
PMID:15483095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75985138dup , CM000669.2:g.75985138dup | GRCh38 |
| NC_000007.13:g.75614456dup , CM000669.1:g.75614456dup | GRCh37 |
| NC_000007.12:g.75452392dup | NCBI36 |
| NG_008930.1:g.75037dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475509.2:c.1104dup | ENSP00000516446.1:p.Ile369HisfsTer6 | |
| ENST00000706544.1:c.1230dup | ENSP00000516442.1:p.Ile411HisfsTer6 | |
| ENST00000706545.1:c.1329dup | ENSP00000516443.1:p.Ile444HisfsTer6 | |
| ENST00000706546.1:c.1329dup | ENSP00000516444.1:p.Ile444HisfsTer6 | |
| ENST00000706547.1:c.1329dup | ENSP00000516445.1:p.Ile444HisfsTer6 | |
| ENST00000461988.6:c.1329dup MANE Select | ENSP00000419970.1:p.Ile444HisfsTer6 | |
| ENST00000394893.5:c.1329dup | ENSP00000378355.1:p.Ile444HisfsTer6 | |
| ENST00000412064.6:c.*109-922dup | ENSP00000404731.2:n.*109-922dup | |
| ENST00000439269.1:c.543dup | ENSP00000412490.1:p.Ile182HisfsTer6 | |
| ENST00000447222.5:c.1480dup | ||
| ENST00000454934.5:c.*634dup | ENSP00000414263.1:n.*634dup | |
| ENST00000461988.5:c.1329dup | ENSP00000419970.1:p.Ile444HisfsTer6 | |
| ENST00000487247.5:n.684dup | ||
| ENST00000495770.1:n.331dup | ||
| ENST00000496888.5:n.703dup | ||
| NM_000941.2:c.1329dup | NP_000932.3:p.Ile444HisfsTer6 | |
| NM_000941.3:c.1329dup | NP_000932.3:p.Ile444HisfsTer6 | |
| NM_001367562.1:c.1329dup | NP_001354491.1:p.Ile444HisfsTer6 | |
| NM_001382655.1:c.1383dup | NP_001369584.1:p.Ile462HisfsTer6 | |
| NM_001382657.1:c.1329dup | NP_001369586.1:p.Ile444HisfsTer6 | |
| NM_001382658.1:c.1329dup | NP_001369587.1:p.Ile444HisfsTer6 | |
| NM_001382659.1:c.1329dup | NP_001369588.1:p.Ile444HisfsTer6 | |
| NM_001382662.1:c.1248+180dup | NP_001369591.1:n.1248+180dup | |
| NM_001367562.3:c.1320dup | NP_001354491.2:p.Ile441HisfsTer6 | |
| NM_001382655.3:c.1374dup | NP_001369584.2:p.Ile459HisfsTer6 | |
| NM_001382657.2:c.1320dup | NP_001369586.2:p.Ile441HisfsTer6 | |
| NM_001382658.3:c.1320dup | NP_001369587.2:p.Ile441HisfsTer6 | |
| NM_001382659.3:c.1320dup | NP_001369588.2:p.Ile441HisfsTer6 | |
| NM_001382662.3:c.1239+180dup | NP_001369591.2:n.1239+180dup | |
| NM_001395413.1:c.1320dup MANE Select | NP_001382342.1:p.Ile441HisfsTer6 |