Linked Data
ClinVar Variation Id:
523937
dbSNP Id:
rs551348450
ExAC:
6:76599857 G / GA
gnomAD v2:
6-76599857-G-GA
gnomAD v3:
6-75890140-G-GA
gnomAD v4:
6-75890140-G-GA
MyVariant Identifiers:
chr6:g.76599866dup (hg19)
chr6:g.76599858_76599859insA (hg19)
chr6:g.76599857_76599858insA (hg19)
chr6:g.75890149dup (hg38)
chr6:g.75890141_75890142insA (hg38)
chr6:g.75890140_75890141insA (hg38)
ERepo:
CA3897446/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75890149dup , CM000668.2:g.75890149dup | GRCh38 |
| NC_000006.11:g.76599866dup , CM000668.1:g.76599866dup | GRCh37 |
| NC_000006.10:g.76656586dup | NCBI36 |
| NG_009934.1:g.145958dup | |
| NG_009934.2:g.145957dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369975.6:c.2751dup | ENSP00000358992.1:p.Gln918ThrfsTer24 | |
| ENST00000369977.8:c.2751dup MANE Select | ENSP00000358994.3:p.Gln918ThrfsTer24 | |
| ENST00000369985.9:c.2751dup | ENSP00000359002.3:p.Gln918ThrfsTer24 | |
| ENST00000627432.3:c.2760dup | ENSP00000487348.2:p.Gln921ThrfsTer24 | |
| ENST00000653917.1:c.*858dup | ENSP00000499623.1:n.*858dup | |
| ENST00000662184.1:c.*858dup | ENSP00000499732.1:n.*858dup | |
| ENST00000662603.1:c.2751dup | ENSP00000499324.1:p.Gln918ThrfsTer? | |
| ENST00000663400.1:c.*776dup | ENSP00000499736.1:n.*776dup | |
| ENST00000664209.1:c.2751dup | ENSP00000499768.1:p.Gln918ThrfsTer? | |
| ENST00000664640.1:c.2751dup | ENSP00000499278.1:p.Gln918ThrfsTer24 | |
| ENST00000671923.1:c.*858dup | ENSP00000500835.1:n.*858dup | |
| ENST00000672093.1:c.2751dup | ENSP00000500710.1:p.Gln918ThrfsTer24 | |
| ENST00000369975.5:c.2751dup | ENSP00000358992.1:p.Gln918ThrfsTer24 | |
| ENST00000369977.7:c.2751dup | ENSP00000358994.3:p.Gln918ThrfsTer24 | |
| ENST00000369981.7:c.2751dup | ENSP00000358998.4:p.Gln918ThrfsTer24 | |
| ENST00000369985.8:c.2751dup | ENSP00000359002.3:p.Gln918ThrfsTer24 | |
| ENST00000615563.4:c.2751dup | ENSP00000478013.1:p.Gln918ThrfsTer24 | |
| ENST00000627432.2:c.2751dup | ENSP00000487348.1:p.Gln918ThrfsTer24 | |
| NM_001300899.1:c.2751dup | NP_001287828.1:p.Gln918ThrfsTer24 | |
| NM_004999.3:c.2751dup | NP_004990.3:p.Gln918ThrfsTer24 | |
| XM_005248719.2:c.2751dup | XP_005248776.1:p.Gln918ThrfsTer24 | |
| XM_005248720.2:c.2751dup | XP_005248777.1:p.Gln918ThrfsTer24 | |
| XM_005248721.2:c.2751dup | XP_005248778.1:p.Gln918ThrfsTer24 | |
| XM_005248722.2:c.2751dup | XP_005248779.1:p.Gln918ThrfsTer24 | |
| XM_005248724.2:c.2751dup | XP_005248781.1:p.Gln918ThrfsTer24 | |
| XM_005248726.2:c.2751dup | XP_005248783.1:p.Gln918ThrfsTer24 | |
| XM_005248719.4:c.2751dup | XP_005248776.1:p.Gln918ThrfsTer24 | |
| XM_005248720.4:c.2751dup | XP_005248777.1:p.Gln918ThrfsTer24 | |
| XM_005248721.4:c.2751dup | XP_005248778.1:p.Gln918ThrfsTer24 | |
| XM_005248722.4:c.2751dup | XP_005248779.1:p.Gln918ThrfsTer24 | |
| XM_005248724.4:c.2751dup | XP_005248781.1:p.Gln918ThrfsTer24 | |
| XM_005248726.4:c.2751dup | XP_005248783.1:p.Gln918ThrfsTer24 | |
| XM_017010899.2:c.2751dup | XP_016866388.1:p.Gln918ThrfsTer24 | |
| XM_024446447.1:c.2751dup | XP_024302215.1:p.Gln918ThrfsTer24 | |
| XM_024446448.1:c.2751dup | XP_024302216.1:p.Gln918ThrfsTer24 | |
| NM_004999.4:c.2751dup MANE Select | NP_004990.3:p.Gln918ThrfsTer24 | |
| NM_001300899.2:c.2751dup | NP_001287828.1:p.Gln918ThrfsTer24 | |
| NM_001368136.1:c.2751dup | NP_001355065.1:p.Gln918ThrfsTer24 | |
| NM_001368137.1:c.2751dup | NP_001355066.1:p.Gln918ThrfsTer24 | |
| NM_001368138.1:c.2736dup | NP_001355067.1:p.Gln913ThrfsTer24 | |
| NM_001368865.1:c.2751dup | NP_001355794.1:p.Gln918ThrfsTer24 | |
| NM_001368866.1:c.2751dup | NP_001355795.1:p.Gln918ThrfsTer24 | |
| NR_160538.1:n.3076dup |