Linked Data
ClinVar Variation Id:
409261
dbSNP Id:
rs1060502318
gnomAD v3:
3-8733881-TGG-T
gnomAD v4:
3-8733881-TGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8733882_8733883del , CM000665.2:g.8733882_8733883del | GRCh38 |
| NC_000003.11:g.8775568_8775569del , CM000665.1:g.8775568_8775569del | GRCh37 |
| NC_000003.10:g.8750568_8750569del | NCBI36 |
| NG_008797.2:g.5073_5074del , LRG_329:g.5073_5074del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.6_7del (CAV3) MANE Select | ENSP00000341940.2:p.Met2IlefsTer21 | |
| ENST00000343849.2:c.6_7del (CAV3) | ENSP00000341940.2:p.Met2IlefsTer21 | |
| ENST00000397368.2:c.6_7del (CAV3) | ENSP00000380525.2:p.Met2IlefsTer21 | |
| ENST00000435138.5:c.64+8576_64+8577del (SSUH2) | ENSP00000412333.1:n.64+8576_64+8577del | |
| ENST00000472766.1:n.47_48del (CAV3) | ||
| ENST00000478513.1:n.335+8576_335+8577del (SSUH2) | ||
| NM_001234.4:c.6_7del (CAV3) | NP_001225.1:p.Met2IlefsTer21 | |
| NM_033337.2:c.6_7del , LRG_329t1:c.6_7del (CAV3) | NP_203123.1:p.Met2IlefsTer21 | |
| XR_940435.1:n.330+8576_330+8577del (SSUH2) | ||
| XM_017006530.1:c.-283+8576_-283+8577del (SSUH2) | XP_016862019.1:n.-283+8576_-283+8577del | |
| NM_001234.5:c.6_7del (CAV3) | NP_001225.1:p.Met2IlefsTer21 | |
| NM_033337.3:c.6_7del (CAV3) MANE Select | NP_203123.1:p.Met2IlefsTer21 |