Linked Data
ClinVar Variation Id:
36423
dbSNP Id:
rs193922364
ExAC:
19:17953306 CAG / C
gnomAD v2:
19-17953306-CAG-C
gnomAD v4:
19-17842497-CAG-C
ERepo:
CA214096/MONDO:0010938/121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17842498_17842499del , CM000681.2:g.17842498_17842499del | GRCh38 |
| NC_000019.9:g.17953307_17953308del , CM000681.1:g.17953307_17953308del | GRCh37 |
| NC_000019.8:g.17814307_17814308del | NCBI36 |
| NG_007273.1:g.10493_10494del , LRG_77:g.10493_10494del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526008.6:c.678_679del | ENSP00000513006.1:p.Cys227ProfsTer? | |
| ENST00000458235.7:c.678_679del MANE Select | ENSP00000391676.1:p.Cys227ProfsTer? | |
| ENST00000458235.5:c.678_679del | ENSP00000391676.1:p.Cys227ProfsTer? | |
| ENST00000526008.5:n.778_779del | ||
| ENST00000527031.5:n.768_769del | ||
| ENST00000527670.5:c.678_679del | ENSP00000432511.1:p.Cys227ProfsTer? | |
| ENST00000528293.1:n.1109_1110del | ||
| ENST00000528705.1:n.27_28del | ||
| ENST00000534444.1:c.678_679del | ENSP00000436421.1:p.Cys227ProfsTer? | |
| NM_000215.3:c.678_679del , LRG_77t1:c.678_679del | NP_000206.2:p.Cys227ProfsTer? | |
| XM_005259896.2:c.807_808del | XP_005259953.1:p.Cys270ProfsTer? | |
| XM_006722745.2:c.678_679del | XP_006722808.1:p.Cys227ProfsTer? | |
| XM_011527990.1:c.807_808del | XP_011526292.1:p.Cys270ProfsTer? | |
| XM_011527991.1:c.807_808del | XP_011526293.1:p.Cys270ProfsTer? | |
| XR_430137.2:n.817_818del | ||
| XM_005259896.3:c.807_808del | XP_005259953.1:p.Cys270ProfsTer? | |
| XM_011527991.2:c.807_808del | XP_011526293.1:p.Cys270ProfsTer? | |
| NM_000215.4:c.678_679del MANE Select | NP_000206.2:p.Cys227ProfsTer? |