Linked Data
ClinVar Variation Id:
195003
dbSNP Id:
rs797044667
gnomAD v2:
11-22294475-T-TA
gnomAD v3:
11-22272929-T-TA
gnomAD v4:
11-22272929-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22272930dup , CM000673.2:g.22272930dup | GRCh38 |
| NC_000011.9:g.22294476dup , CM000673.1:g.22294476dup | GRCh37 |
| NC_000011.8:g.22251052dup | NCBI36 |
| NG_015844.1:g.84755dup , LRG_868:g.84755dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000532043.2:n.193dup | ||
| ENST00000682266.1:c.1726dup | ENSP00000507766.1:p.Ser576LysfsTer20 | |
| ENST00000682341.1:c.2134dup | ENSP00000508251.1:p.Ser712LysfsTer20 | |
| ENST00000683197.1:c.2134dup | ENSP00000507641.1:p.Ser712LysfsTer20 | |
| ENST00000683411.1:c.1726dup | ENSP00000508397.1:p.Ser576LysfsTer20 | |
| ENST00000683437.1:c.1726dup | ENSP00000508408.1:p.Ser576LysfsTer20 | |
| ENST00000683613.1:n.3170dup | ||
| ENST00000684663.1:c.2131dup | ENSP00000508009.1:p.Ser711LysfsTer20 | |
| ENST00000324559.9:c.2176dup MANE Select | ENSP00000315371.9:p.Ser726LysfsTer20 | |
| ENST00000648804.1:n.2511dup | ||
| ENST00000324559.8:c.2176dup | ENSP00000315371.8:p.Ser726LysfsTer20 | |
| ENST00000532043.1:n.193dup | ||
| NM_001142649.1:c.2173dup | NP_001136121.1:p.Ser725LysfsTer20 | |
| NM_213599.2:c.2176dup , LRG_868t1:c.2176dup | NP_998764.1:p.Ser726LysfsTer20 | |
| XM_005252820.2:c.2134dup | XP_005252877.2:p.Ser712LysfsTer20 | |
| XM_005252821.2:c.2131dup | XP_005252878.2:p.Ser711LysfsTer20 | |
| XM_005252822.3:c.2098dup | XP_005252879.1:p.Ser700LysfsTer20 | |
| XM_005252823.3:c.2095dup | XP_005252880.1:p.Ser699LysfsTer20 | |
| XM_011519949.1:c.2083dup | XP_011518251.1:p.Ser695LysfsTer20 | |
| XM_005252820.3:c.2134dup | XP_005252877.2:p.Ser712LysfsTer20 | |
| XM_005252821.3:c.2131dup | XP_005252878.2:p.Ser711LysfsTer20 | |
| XM_005252822.4:c.2098dup | XP_005252879.1:p.Ser700LysfsTer20 | |
| XM_011519949.2:c.2083dup | XP_011518251.1:p.Ser695LysfsTer20 | |
| NM_001142649.2:c.2173dup | NP_001136121.1:p.Ser725LysfsTer20 | |
| NM_213599.3:c.2176dup MANE Select | NP_998764.1:p.Ser726LysfsTer20 |