Linked Data
ClinVar Variation Id:
1440062
ClinVar RCV Id:
RCV001978757
dbSNP Id:
rs746738154
ExAC:
11:22294490 GCAAGA / G
gnomAD v2:
11-22294490-GCAAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22272947_22272951del , CM000673.2:g.22272947_22272951del | GRCh38 |
| NC_000011.9:g.22294493_22294497del , CM000673.1:g.22294493_22294497del | GRCh37 |
| NC_000011.8:g.22251069_22251073del | NCBI36 |
| NG_015844.1:g.84772_84776del , LRG_868:g.84772_84776del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.210_214del | ||
| ENST00000682266.1:c.1743_1747del | ENSP00000507766.1:p.Gln581HisfsTer13 | |
| ENST00000682341.1:c.2151_2155del | ENSP00000508251.1:p.Gln717HisfsTer13 | |
| ENST00000683197.1:c.2151_2155del | ENSP00000507641.1:p.Gln717HisfsTer13 | |
| ENST00000683411.1:c.1743_1747del | ENSP00000508397.1:p.Gln581HisfsTer13 | |
| ENST00000683437.1:c.1743_1747del | ENSP00000508408.1:p.Gln581HisfsTer13 | |
| ENST00000683613.1:n.3187_3191del | ||
| ENST00000684663.1:c.2148_2152del | ENSP00000508009.1:p.Gln716HisfsTer13 | |
| ENST00000324559.9:c.2193_2197del MANE Select | ENSP00000315371.9:p.Gln731HisfsTer13 | |
| ENST00000648804.1:n.2528_2532del | ||
| ENST00000324559.8:c.2193_2197del | ENSP00000315371.8:p.Gln731HisfsTer13 | |
| ENST00000532043.1:n.210_214del | ||
| NM_001142649.1:c.2190_2194del | NP_001136121.1:p.Gln730HisfsTer13 | |
| NM_213599.2:c.2193_2197del , LRG_868t1:c.2193_2197del | NP_998764.1:p.Gln731HisfsTer13 | |
| XM_005252820.2:c.2151_2155del | XP_005252877.2:p.Gln717HisfsTer13 | |
| XM_005252821.2:c.2148_2152del | XP_005252878.2:p.Gln716HisfsTer13 | |
| XM_005252822.3:c.2115_2119del | XP_005252879.1:p.Gln705HisfsTer13 | |
| XM_005252823.3:c.2112_2116del | XP_005252880.1:p.Gln704HisfsTer13 | |
| XM_011519949.1:c.2100_2104del | XP_011518251.1:p.Gln700HisfsTer13 | |
| XM_005252820.3:c.2151_2155del | XP_005252877.2:p.Gln717HisfsTer13 | |
| XM_005252821.3:c.2148_2152del | XP_005252878.2:p.Gln716HisfsTer13 | |
| XM_005252822.4:c.2115_2119del | XP_005252879.1:p.Gln705HisfsTer13 | |
| XM_011519949.2:c.2100_2104del | XP_011518251.1:p.Gln700HisfsTer13 | |
| NM_001142649.2:c.2190_2194del | NP_001136121.1:p.Gln730HisfsTer13 | |
| NM_213599.3:c.2193_2197del MANE Select | NP_998764.1:p.Gln731HisfsTer13 |