Linked Data
ClinVar Variation Id:
289274
dbSNP Id:
rs796214553
ExAC:
9:138656917 CAG / C
gnomAD v2:
9-138656917-CAG-C
gnomAD v3:
9-135765071-CAG-C
gnomAD v4:
9-135765071-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135765072_135765073del , CM000671.2:g.135765072_135765073del | GRCh38 |
| NC_000009.11:g.138656918_138656919del , CM000671.1:g.138656918_138656919del | GRCh37 |
| NC_000009.10:g.137796739_137796740del | NCBI36 |
| NG_033070.1:g.67888_67889del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371757.7:c.1077_1078del MANE Select | ENSP00000360822.2:p.Gly361GlnfsTer? | |
| ENST00000674572.1:c.918_919del | ENSP00000501742.1:p.Gly308GlnfsTer? | |
| ENST00000675090.1:c.825_826del | ENSP00000501833.1:p.Gly277GlnfsTer? | |
| ENST00000675399.1:c.825_826del | ENSP00000501932.1:p.Gly277GlnfsTer? | |
| ENST00000676421.1:c.834_835del | ENSP00000502322.1:p.Gly280GlnfsTer? | |
| ENST00000263604.5:c.978_979del | ENSP00000263604.4:p.Gly328GlnfsTer? | |
| ENST00000371757.6:c.1077_1078del | ENSP00000360822.2:p.Gly361GlnfsTer? | |
| ENST00000460750.5:c.*687_*688del | ENSP00000418777.1:n.*687_*688del | |
| ENST00000486577.6:c.960_961del | ENSP00000417578.3:p.Gly322GlnfsTer? | |
| ENST00000487664.5:c.1077_1078del | ENSP00000417851.2:p.Gly361GlnfsTer? | |
| ENST00000488444.6:c.1020_1021del | ENSP00000419007.3:p.Gly342GlnfsTer? | |
| ENST00000490355.6:c.1020_1021del | ENSP00000418003.3:p.Gly342GlnfsTer? | |
| ENST00000490363.3:n.896_897del | ||
| ENST00000491806.6:c.1020_1021del | ENSP00000419086.3:p.Gly342GlnfsTer? | |
| ENST00000628528.2:c.942_943del | ENSP00000486374.1:p.Gly316GlnfsTer? | |
| ENST00000630792.2:c.918_919del | ENSP00000486486.1:p.Gly308GlnfsTer? | |
| ENST00000631073.2:c.1020_1021del | ENSP00000486130.1:p.Gly342GlnfsTer? | |
| NM_001272003.1:c.942_943del | NP_001258932.1:p.Gly316GlnfsTer? | |
| NM_020822.2:c.1077_1078del | NP_065873.2:p.Gly361GlnfsTer? | |
| XM_011518877.1:c.1212_1213del | XP_011517179.1:p.Gly406GlnfsTer? | |
| XM_011518878.1:c.1221_1222del | XP_011517180.1:p.Gly409GlnfsTer? | |
| XM_011518879.1:c.1212_1213del | XP_011517181.1:p.Gly406GlnfsTer? | |
| XM_011518880.1:c.978_979del | XP_011517182.1:p.Gly328GlnfsTer? | |
| XM_011518881.1:c.567_568del | XP_011517183.1:p.Gly191GlnfsTer? | |
| XM_011518877.3:c.1212_1213del | XP_011517179.1:p.Gly406GlnfsTer? | |
| XM_011518878.3:c.1221_1222del | XP_011517180.1:p.Gly409GlnfsTer? | |
| XM_011518879.3:c.1212_1213del | XP_011517181.1:p.Gly406GlnfsTer? | |
| XM_011518881.3:c.567_568del | XP_011517183.1:p.Gly191GlnfsTer? | |
| XM_017014931.1:c.1011_1012del | XP_016870420.1:p.Gly339GlnfsTer? | |
| XM_017014932.1:c.834_835del | XP_016870421.1:p.Gly280GlnfsTer? | |
| XM_017014933.1:c.567_568del | XP_016870422.1:p.Gly191GlnfsTer? | |
| XM_024447617.1:c.567_568del | XP_024303385.1:p.Gly191GlnfsTer? | |
| XM_024447618.1:c.567_568del | XP_024303386.1:p.Gly191GlnfsTer? | |
| NM_020822.3:c.1077_1078del MANE Select | NP_065873.2:p.Gly361GlnfsTer? | |
| NM_001272003.2:c.942_943del | NP_001258932.1:p.Gly316GlnfsTer? |