Linked Data
dbSNP Id:
rs763741078
ExAC:
1:43395508 CAG / C
gnomAD v2:
1-43395508-CAG-C
gnomAD v3:
1-42929837-CAG-C
gnomAD v4:
1-42929837-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929838_42929839del , CM000663.2:g.42929838_42929839del | GRCh38 |
| NC_000001.10:g.43395509_43395510del , CM000663.1:g.43395509_43395510del | GRCh37 |
| NC_000001.9:g.43168096_43168097del | NCBI36 |
| NG_008232.1:g.34338_34339del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.679+34_679+35del MANE Select | ENSP00000416293.2:n.679+34_679+35del | |
| ENST00000669445.1:c.56+34_56+35del | ||
| ENST00000674765.1:c.679+34_679+35del | ENSP00000501811.1:n.679+34_679+35del | |
| ENST00000675112.1:n.702+34_702+35del | ||
| ENST00000676254.1:n.1128+34_1128+35del | ||
| ENST00000426263.7:c.679+34_679+35del | ENSP00000416293.2:n.679+34_679+35del | |
| ENST00000439722.2:c.558+34_558+35del | ENSP00000395521.2:n.558+34_558+35del | |
| ENST00000475162.3:c.415+787_415+788del | ||
| ENST00000630287.2:c.517-59_517-58del | ENSP00000486694.1:n.517-59_517-58del | |
| NM_006516.2:c.679+34_679+35del | NP_006507.2:n.679+34_679+35del | |
| NM_006516.3:c.679+34_679+35del | NP_006507.2:n.679+34_679+35del | |
| NM_006516.4:c.679+34_679+35del MANE Select | NP_006507.2:n.679+34_679+35del |