Linked Data
dbSNP Id:
rs1355783381
gnomAD v2:
13-48941565-CCT-C
gnomAD v3:
13-48367429-CCT-C
gnomAD v4:
13-48367429-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48367432_48367433del , CM000675.2:g.48367432_48367433del | GRCh38 |
| NC_000013.10:g.48941568_48941569del , CM000675.1:g.48941568_48941569del | GRCh37 |
| NC_000013.9:g.47839569_47839570del | NCBI36 |
| NG_009009.1:g.68686_68687del , LRG_517:g.68686_68687del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.940-62_940-61del MANE Select | ENSP00000267163.4:n.940-62_940-61del | |
| ENST00000650461.1:c.940-62_940-61del | ENSP00000497193.1:n.940-62_940-61del | |
| ENST00000267163.4:c.940-62_940-61del | ENSP00000267163.4:n.940-62_940-61del | |
| NM_000321.2:c.940-62_940-61del , LRG_517t1:c.940-62_940-61del | NP_000312.2:n.940-62_940-61del | |
| XM_011535171.1:c.679-62_679-61del | XP_011533473.1:n.679-62_679-61del | |
| XM_011535171.2:c.679-62_679-61del | XP_011533473.1:n.679-62_679-61del | |
| XR_002957522.1:n.122-2455_122-2454del | ||
| NM_000321.3:c.940-62_940-61del MANE Select | NP_000312.2:n.940-62_940-61del |