Linked Data
dbSNP Id:
rs1176380131
gnomAD v2:
11-68077289-GGC-G
gnomAD v3:
11-68309821-GGC-G
gnomAD v4:
11-68309821-GGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68309822_68309823del , CM000673.2:g.68309822_68309823del | GRCh38 |
| NC_000011.9:g.68077290_68077291del , CM000673.1:g.68077290_68077291del | GRCh37 |
| NC_000011.8:g.67833866_67833867del | NCBI36 |
| NG_015835.1:g.2183_2184del | |
| NG_015835.2:g.2183_2184del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011545029.1:c.118+10824_118+10825del | XP_011543331.1:n.118+10824_118+10825del | |
| XM_011545030.1:c.118+10824_118+10825del | XP_011543332.1:n.118+10824_118+10825del | |
| XM_011545031.1:c.118+10824_118+10825del | XP_011543333.1:n.118+10824_118+10825del | |
| XR_949925.1:n.133+10824_133+10825del | ||
| XR_949926.1:n.133+10824_133+10825del | ||
| XR_001747874.1:n.133+10824_133+10825del | ||
| XR_949925.2:n.133+10824_133+10825del | ||
| XR_949926.2:n.133+10824_133+10825del |