Linked Data
gnomAD v4:
7-75984896-G-GCCTCGGAGC
MyVariant Identifiers:
chr7:g.75614214_75614215insCCTCGGAGC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75984906_75984914dup , CM000669.2:g.75984906_75984914dup | GRCh38 |
| NC_000007.13:g.75614224_75614232dup , CM000669.1:g.75614224_75614232dup | GRCh37 |
| NC_000007.12:g.75452160_75452168dup | NCBI36 |
| NG_008930.1:g.74805_74813dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475509.2:c.971_979dup | ENSP00000516446.1:p.Glu326_Gln327insProSerGlu | |
| ENST00000706544.1:c.1097_1105dup | ENSP00000516442.1:p.Glu368_Gln369insProSerGlu | |
| ENST00000706545.1:c.1196_1204dup | ENSP00000516443.1:p.Glu401_Gln402insProSerGlu | |
| ENST00000706546.1:c.1196_1204dup | ENSP00000516444.1:p.Glu401_Gln402insProSerGlu | |
| ENST00000706547.1:c.1196_1204dup | ENSP00000516445.1:p.Glu401_Gln402insProSerGlu | |
| ENST00000461988.6:c.1196_1204dup MANE Select | ENSP00000419970.1:p.Glu401_Gln402insProSerGlu | |
| ENST00000394893.5:c.1196_1204dup | ENSP00000378355.1:p.Glu401_Gln402insProSerGlu | |
| ENST00000412064.6:c.*109-1154_*109-1146dup | ENSP00000404731.2:n.*109-1154_*109-1146dup | |
| ENST00000439269.1:c.410_418dup | ENSP00000412490.1:p.Glu139_Gln140insProSerGlu | |
| ENST00000447222.5:c.1347_1355dup | ||
| ENST00000454934.5:c.*501_*509dup | ENSP00000414263.1:n.*501_*509dup | |
| ENST00000461988.5:c.1196_1204dup | ENSP00000419970.1:p.Glu401_Gln402insProSerGlu | |
| ENST00000487247.5:n.551_559dup | ||
| ENST00000495770.1:n.198_206dup | ||
| ENST00000496888.5:n.570_578dup | ||
| NM_000941.2:c.1196_1204dup | NP_000932.3:p.Glu401_Gln402insProSerGlu | |
| NM_000941.3:c.1196_1204dup | NP_000932.3:p.Glu401_Gln402insProSerGlu | |
| NM_001367562.1:c.1196_1204dup | NP_001354491.1:p.Glu401_Gln402insProSerGlu | |
| NM_001382655.1:c.1250_1258dup | NP_001369584.1:p.Glu419_Gln420insProSerGlu | |
| NM_001382657.1:c.1196_1204dup | NP_001369586.1:p.Glu401_Gln402insProSerGlu | |
| NM_001382658.1:c.1196_1204dup | NP_001369587.1:p.Glu401_Gln402insProSerGlu | |
| NM_001382659.1:c.1196_1204dup | NP_001369588.1:p.Glu401_Gln402insProSerGlu | |
| NM_001382662.1:c.1196_1204dup | NP_001369591.1:p.Glu401_Gln402insProSerGlu | |
| NM_001367562.3:c.1187_1195dup | NP_001354491.2:p.Glu398_Gln399insProSerGlu | |
| NM_001382655.3:c.1241_1249dup | NP_001369584.2:p.Glu416_Gln417insProSerGlu | |
| NM_001382657.2:c.1187_1195dup | NP_001369586.2:p.Glu398_Gln399insProSerGlu | |
| NM_001382658.3:c.1187_1195dup | NP_001369587.2:p.Glu398_Gln399insProSerGlu | |
| NM_001382659.3:c.1187_1195dup | NP_001369588.2:p.Glu398_Gln399insProSerGlu | |
| NM_001382662.3:c.1187_1195dup | NP_001369591.2:p.Glu398_Gln399insProSerGlu | |
| NM_001395413.1:c.1187_1195dup MANE Select | NP_001382342.1:p.Glu398_Gln399insProSerGlu |