Linked Data
ClinVar Variation Id:
375604
ClinVar RCV Id:
RCV000417085
dbSNP Id:
rs1057519587
PubMed:
PMID:20301355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89964483_89964507del , CM000670.2:g.89964483_89964507del | GRCh38 |
| NC_000008.10:g.90976711_90976735del , CM000670.1:g.90976711_90976735del | GRCh37 |
| NC_000008.9:g.91045887_91045911del | NCBI36 |
| NG_008860.1:g.25168_25192del , LRG_158:g.25168_25192del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.2202_2226del | ||
| ENST00000517337.2:c.654_678del | ENSP00000429971.2:p.Gly219LysfsTer6 | |
| ENST00000523444.2:c.654_678del | ENSP00000428252.2:p.Gly219LysfsTer6 | |
| ENST00000697292.1:c.900_924del | ENSP00000513229.1:p.Gly301LysfsTer6 | |
| ENST00000697293.1:c.900_924del | ENSP00000513230.1:p.Gly301LysfsTer6 | |
| ENST00000697294.1:c.*511_*535del | ENSP00000513231.1:n.*511_*535del | |
| ENST00000697295.1:c.*209_*233del | ENSP00000513232.1:n.*209_*233del | |
| ENST00000697296.1:c.*568_*592del | ENSP00000513233.1:n.*568_*592del | |
| ENST00000697297.1:n.2685_2709del | ||
| ENST00000697298.1:c.654_678del | ENSP00000513234.1:p.Gly219LysfsTer6 | |
| ENST00000697299.1:c.654_678del | ENSP00000513235.1:p.Gly219LysfsTer6 | |
| ENST00000697300.1:c.*504_*528del | ENSP00000513236.1:n.*504_*528del | |
| ENST00000697301.1:c.*421_*445del | ENSP00000513237.1:n.*421_*445del | |
| ENST00000697302.1:c.*421_*445del | ENSP00000513238.1:n.*421_*445del | |
| ENST00000697303.1:c.*504_*528del | ENSP00000513239.1:n.*504_*528del | |
| ENST00000697304.1:c.588_612del | ENSP00000513240.1:p.Gly197LysfsTer6 | |
| ENST00000697306.1:c.481-5650_481-5626del | ENSP00000513241.1:n.481-5650_481-5626del | |
| ENST00000697307.1:c.900_924del | ENSP00000513242.1:p.Gly301LysfsTer6 | |
| ENST00000697308.1:c.900_924del | ENSP00000513243.1:p.Gly301LysfsTer6 | |
| ENST00000697309.1:c.900_924del | ENSP00000513244.1:p.Gly301LysfsTer6 | |
| ENST00000697310.1:c.900_924del | ENSP00000513245.1:p.Gly301LysfsTer6 | |
| ENST00000697311.1:c.900_924del | ENSP00000513246.1:p.Gly301LysfsTer6 | |
| ENST00000697312.1:c.*298_*322del | ENSP00000513247.1:n.*298_*322del | |
| ENST00000697313.1:n.2687+5860_2687+5884del | ||
| ENST00000697314.1:n.2691_2715del | ||
| ENST00000697315.1:c.900_924del | ENSP00000513248.1:p.Gly301LysfsTer6 | |
| ENST00000697316.1:n.1021_1045del | ||
| ENST00000697317.1:n.1010_1034del | ||
| ENST00000697318.1:n.1012_1036del | ||
| ENST00000265433.8:c.900_924del MANE Select | ENSP00000265433.4:p.Gly301LysfsTer6 | |
| ENST00000265433.7:c.900_924del | ENSP00000265433.3:p.Gly301LysfsTer6 | |
| ENST00000396252.6:c.*773_*797del | ENSP00000379551.2:n.*773_*797del | |
| ENST00000409330.5:c.654_678del | ENSP00000386924.1:p.Gly219LysfsTer6 | |
| NM_001024688.2:c.654_678del | NP_001019859.1:p.Gly219LysfsTer6 | |
| NM_002485.4:c.900_924del , LRG_158t1:c.900_924del | NP_002476.2:p.Gly301LysfsTer6 | |
| XM_011517044.1:c.876_900del | XP_011515346.1:p.Gly293LysfsTer6 | |
| XM_011517045.1:c.654_678del | XP_011515347.1:p.Gly219LysfsTer6 | |
| XM_011517046.1:c.900_924del | XP_011515348.1:p.Gly301LysfsTer6 | |
| XR_928335.1:n.1037_1061del | ||
| XM_017013460.1:c.21_45del | XP_016868949.1:p.Gly8LysfsTer6 | |
| XM_017013462.2:c.21_45del | XP_016868951.1:p.Gly8LysfsTer6 | |
| XM_024447163.1:c.654_678del | XP_024302931.1:p.Gly219LysfsTer6 | |
| XM_024447164.1:c.654_678del | XP_024302932.1:p.Gly219LysfsTer6 | |
| XM_024447165.1:c.21_45del | XP_024302933.1:p.Gly8LysfsTer6 | |
| NM_002485.5:c.900_924del MANE Select | NP_002476.2:p.Gly301LysfsTer6 | |
| NM_001024688.3:c.654_678del | NP_001019859.1:p.Gly219LysfsTer6 |