Linked Data
dbSNP Id:
rs376089536
gnomAD v2:
1-209806665-CGT-C
gnomAD v3:
1-209633320-CGT-C
gnomAD v4:
1-209633320-CGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209633333_209633334del , CM000663.2:g.209633333_209633334del | GRCh38 |
| NC_000001.10:g.209806678_209806679del , CM000663.1:g.209806678_209806679del | GRCh37 |
| NC_000001.9:g.207873301_207873302del | NCBI36 |
| NG_007116.1:g.24154_24155del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.565-189_565-188del MANE Select | ENSP00000348384.3:n.565-189_565-188del | |
| ENST00000356082.8:c.565-189_565-188del | ENSP00000348384.3:n.565-189_565-188del | |
| ENST00000367030.7:c.565-189_565-188del | ENSP00000355997.3:n.565-189_565-188del | |
| ENST00000391911.5:c.565-189_565-188del | ENSP00000375778.1:n.565-189_565-188del | |
| NM_000228.2:c.565-189_565-188del | NP_000219.2:n.565-189_565-188del | |
| NM_001017402.1:c.565-189_565-188del | NP_001017402.1:n.565-189_565-188del | |
| NM_001127641.1:c.565-189_565-188del | NP_001121113.1:n.565-189_565-188del | |
| XM_005273124.3:c.565-189_565-188del | XP_005273181.1:n.565-189_565-188del | |
| XM_005273124.4:c.565-189_565-188del | XP_005273181.1:n.565-189_565-188del | |
| XM_017001272.2:c.373-189_373-188del | XP_016856761.1:n.373-189_373-188del | |
| NM_000228.3:c.565-189_565-188del MANE Select | NP_000219.2:n.565-189_565-188del | |
| NM_001017402.2:c.565-189_565-188del | NP_001017402.1:n.565-189_565-188del |