Linked Data
dbSNP Id:
rs758997956
ExAC:
11:67353525 CAG / C
gnomAD v2:
11-67353525-CAG-C
gnomAD v4:
11-67586054-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586055_67586056del , CM000673.2:g.67586055_67586056del | GRCh38 |
| NC_000011.9:g.67353526_67353527del , CM000673.1:g.67353526_67353527del | GRCh37 |
| NC_000011.8:g.67110102_67110103del | NCBI36 |
| NG_012075.1:g.7461_7462del , LRG_723:g.7461_7462del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.337-334_337-333del | ENSP00000381604.1:n.337-334_337-333del | |
| ENST00000398606.10:c.337-49_337-48del MANE Select | ENSP00000381607.3:n.337-49_337-48del | |
| ENST00000646888.1:c.*53-49_*53-48del | ENSP00000494477.1:n.*53-49_*53-48del | |
| ENST00000398603.5:c.337-334_337-333del | ENSP00000381604.1:n.337-334_337-333del | |
| ENST00000398606.7:c.337-49_337-48del | ENSP00000381607.3:n.337-49_337-48del | |
| ENST00000467591.1:n.448-49_448-48del | ||
| ENST00000494593.1:n.1132-49_1132-48del | ||
| ENST00000498765.5:c.400-49_400-48del | ||
| NM_000852.3:c.337-49_337-48del , LRG_723t1:c.337-49_337-48del | NP_000843.1:n.337-49_337-48del | |
| NM_000852.4:c.337-49_337-48del MANE Select | NP_000843.1:n.337-49_337-48del |