Linked Data
dbSNP Id:
rs1427818182
gnomAD v2:
3-8783446-AC-A
gnomAD v3:
3-8741760-AC-A
gnomAD v4:
3-8741760-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8741764del , CM000665.2:g.8741764del | GRCh38 |
| NC_000003.11:g.8783450del , CM000665.1:g.8783450del | GRCh37 |
| NC_000003.10:g.8758450del | NCBI36 |
| NG_008797.2:g.12955del , LRG_329:g.12955del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.115-3762del (CAV3) MANE Select | ENSP00000341940.2:n.115-3762del | |
| ENST00000343849.2:c.115-3762del (CAV3) | ENSP00000341940.2:n.115-3762del | |
| ENST00000397368.2:c.115-3762del (CAV3) | ENSP00000380525.2:n.115-3762del | |
| ENST00000435138.5:c.64+698del (SSUH2) | ENSP00000412333.1:n.64+698del | |
| ENST00000472766.1:n.155+7774del (CAV3) | ||
| ENST00000478513.1:n.335+698del (SSUH2) | ||
| NM_001234.4:c.115-3762del (CAV3) | NP_001225.1:n.115-3762del | |
| NM_033337.2:c.115-3762del , LRG_329t1:c.115-3762del (CAV3) | NP_203123.1:n.115-3762del | |
| XR_940435.1:n.330+698del (SSUH2) | ||
| XM_017006530.1:c.-283+698del (SSUH2) | XP_016862019.1:n.-283+698del | |
| NM_001234.5:c.115-3762del (CAV3) | NP_001225.1:n.115-3762del | |
| NM_033337.3:c.115-3762del (CAV3) MANE Select | NP_203123.1:n.115-3762del |