Linked Data
dbSNP Id:
rs60767265
gnomAD v2:
12-10598626-CT-C
gnomAD v3:
12-10446027-CT-C
gnomAD v4:
12-10446027-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10446040del , CM000674.2:g.10446040del | GRCh38 |
| NC_000012.11:g.10598639del , CM000674.1:g.10598639del | GRCh37 |
| NC_000012.10:g.10489906del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359151.8:c.*523del MANE Select | ENSP00000352064.3:n.*523del | |
| ENST00000359151.7:c.*523del | ENSP00000352064.3:n.*523del | |
| ENST00000408006.7:c.*523del | ENSP00000385304.3:n.*523del | |
| ENST00000536188.5:c.685+540del | ENSP00000441432.1:n.685+540del | |
| NM_001304448.1:c.685+540del | NP_001291377.1:n.685+540del | |
| NM_002259.4:c.*523del | NP_002250.1:n.*523del | |
| NM_007328.3:c.*523del | NP_015567.1:n.*523del | |
| NM_213657.2:c.*523del | NP_998822.1:n.*523del | |
| NM_213658.2:c.*523del | NP_998823.1:n.*523del | |
| XM_024448973.1:c.685+540del | XP_024304741.1:n.685+540del | |
| NM_002259.5:c.*523del MANE Select | NP_002250.2:n.*523del | |
| NM_007328.4:c.*523del | NP_015567.2:n.*523del | |
| NM_213657.3:c.*523del | NP_998822.2:n.*523del | |
| NM_213658.3:c.*523del | NP_998823.2:n.*523del |