Linked Data
dbSNP Id:
rs958603624
gnomAD v2:
2-21261188-CT-C
gnomAD v3:
2-21038316-CT-C
gnomAD v4:
2-21038316-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21038325del , CM000664.2:g.21038325del | GRCh38 |
| NC_000002.11:g.21261197del , CM000664.1:g.21261197del | GRCh37 |
| NC_000002.10:g.21114702del | NCBI36 |
| NG_011793.1:g.10757del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.384-1062del | ENSP00000501110.2:n.384-1062del | |
| ENST00000673882.2:c.384-1062del | ENSP00000501253.2:n.384-1062del | |
| ENST00000673739.1:c.252-1062del | ENSP00000501110.1:n.252-1062del | |
| ENST00000673882.1:c.252-1062del | ENSP00000501253.1:n.252-1062del | |
| ENST00000233242.5:c.384-206del MANE Select | ENSP00000233242.1:n.384-206del | |
| ENST00000399256.4:c.384-206del | ENSP00000382200.4:n.384-206del | |
| ENST00000616098.4:c.384-206del | ENSP00000477990.1:n.384-206del | |
| NM_000384.2:c.384-206del | NP_000375.2:n.384-206del | |
| XM_011532809.1:c.384-206del | XP_011531111.1:n.384-206del | |
| NM_000384.3:c.384-206del MANE Select | NP_000375.3:n.384-206del |