Linked Data
ClinVar Variation Id:
228375
dbSNP Id:
rs876657709
ExAC:
6:76599925 GAA / G
gnomAD v2:
6-76599925-GAA-G
gnomAD v3:
6-75890208-GAA-G
gnomAD v4:
6-75890208-GAA-G
MyVariant Identifiers:
chr6:g.76599929_76599930del (hg19)
chr6:g.76599926_76599927del (hg19)
chr6:g.75890212_75890213del (hg38)
chr6:g.75890209_75890210del (hg38)
PubMed:
PMID:25227905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75890212_75890213del , CM000668.2:g.75890212_75890213del | GRCh38 |
| NC_000006.11:g.76599929_76599930del , CM000668.1:g.76599929_76599930del | GRCh37 |
| NC_000006.10:g.76656649_76656650del | NCBI36 |
| NG_009934.1:g.146021_146022del | |
| NG_009934.2:g.146020_146021del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369975.6:c.2814_2815del | ENSP00000358992.1:p.Arg939ThrfsTer2 | |
| ENST00000369977.8:c.2814_2815del MANE Select | ENSP00000358994.3:p.Arg939ThrfsTer2 | |
| ENST00000369985.9:c.2814_2815del | ENSP00000359002.3:p.Arg939ThrfsTer2 | |
| ENST00000627432.3:c.2823_2824del | ENSP00000487348.2:p.Arg942ThrfsTer2 | |
| ENST00000664640.1:c.2814_2815del | ENSP00000499278.1:p.Arg939ThrfsTer2 | |
| ENST00000671923.1:c.*921_*922del | ENSP00000500835.1:n.*921_*922del | |
| ENST00000672093.1:c.2814_2815del | ENSP00000500710.1:p.Arg939ThrfsTer2 | |
| ENST00000369975.5:c.2814_2815del | ENSP00000358992.1:p.Arg939ThrfsTer2 | |
| ENST00000369977.7:c.2814_2815del | ENSP00000358994.3:p.Arg939ThrfsTer2 | |
| ENST00000369981.7:c.2814_2815del | ENSP00000358998.4:p.Arg939ThrfsTer2 | |
| ENST00000369985.8:c.2814_2815del | ENSP00000359002.3:p.Arg939ThrfsTer2 | |
| ENST00000615563.4:c.2814_2815del | ENSP00000478013.1:p.Arg939ThrfsTer2 | |
| ENST00000627432.2:c.2814_2815del | ENSP00000487348.1:p.Arg939ThrfsTer2 | |
| NM_001300899.1:c.2814_2815del | NP_001287828.1:p.Arg939ThrfsTer2 | |
| NM_004999.3:c.2814_2815del | NP_004990.3:p.Arg939ThrfsTer2 | |
| XM_005248719.2:c.2814_2815del | XP_005248776.1:p.Arg939ThrfsTer2 | |
| XM_005248720.2:c.2814_2815del | XP_005248777.1:p.Arg939ThrfsTer2 | |
| XM_005248721.2:c.2814_2815del | XP_005248778.1:p.Arg939ThrfsTer2 | |
| XM_005248722.2:c.2814_2815del | XP_005248779.1:p.Arg939ThrfsTer2 | |
| XM_005248724.2:c.2814_2815del | XP_005248781.1:p.Arg939ThrfsTer2 | |
| XM_005248726.2:c.2814_2815del | XP_005248783.1:p.Arg939ThrfsTer2 | |
| XM_005248719.4:c.2814_2815del | XP_005248776.1:p.Arg939ThrfsTer2 | |
| XM_005248720.4:c.2814_2815del | XP_005248777.1:p.Arg939ThrfsTer2 | |
| XM_005248721.4:c.2814_2815del | XP_005248778.1:p.Arg939ThrfsTer2 | |
| XM_005248722.4:c.2814_2815del | XP_005248779.1:p.Arg939ThrfsTer2 | |
| XM_005248724.4:c.2814_2815del | XP_005248781.1:p.Arg939ThrfsTer2 | |
| XM_005248726.4:c.2814_2815del | XP_005248783.1:p.Arg939ThrfsTer2 | |
| XM_017010899.2:c.2814_2815del | XP_016866388.1:p.Arg939ThrfsTer2 | |
| XM_024446447.1:c.2814_2815del | XP_024302215.1:p.Arg939ThrfsTer2 | |
| XM_024446448.1:c.2814_2815del | XP_024302216.1:p.Arg939ThrfsTer2 | |
| NM_004999.4:c.2814_2815del MANE Select | NP_004990.3:p.Arg939ThrfsTer2 | |
| NM_001300899.2:c.2814_2815del | NP_001287828.1:p.Arg939ThrfsTer2 | |
| NM_001368136.1:c.2814_2815del | NP_001355065.1:p.Arg939ThrfsTer2 | |
| NM_001368137.1:c.2814_2815del | NP_001355066.1:p.Arg939ThrfsTer2 | |
| NM_001368138.1:c.2799_2800del | NP_001355067.1:p.Arg934ThrfsTer2 | |
| NM_001368865.1:c.2814_2815del | NP_001355794.1:p.Arg939ThrfsTer2 | |
| NM_001368866.1:c.2814_2815del | NP_001355795.1:p.Arg939ThrfsTer2 | |
| NR_160538.1:n.3139_3140del |