Linked Data
dbSNP Id:
rs1559645523
gnomAD v2:
3-8780144-CG-C
gnomAD v3:
3-8738458-CG-C
gnomAD v4:
3-8738458-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8738462del , CM000665.2:g.8738462del | GRCh38 |
| NC_000003.11:g.8780148del , CM000665.1:g.8780148del | GRCh37 |
| NC_000003.10:g.8755148del | NCBI36 |
| NG_008797.2:g.9653del , LRG_329:g.9653del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.114+4472del (CAV3) MANE Select | ENSP00000341940.2:n.114+4472del | |
| ENST00000343849.2:c.114+4472del (CAV3) | ENSP00000341940.2:n.114+4472del | |
| ENST00000397368.2:c.114+4472del (CAV3) | ENSP00000380525.2:n.114+4472del | |
| ENST00000435138.5:c.64+4000del (SSUH2) | ENSP00000412333.1:n.64+4000del | |
| ENST00000472766.1:n.155+4472del (CAV3) | ||
| ENST00000478513.1:n.335+4000del (SSUH2) | ||
| NM_001234.4:c.114+4472del (CAV3) | NP_001225.1:n.114+4472del | |
| NM_033337.2:c.114+4472del , LRG_329t1:c.114+4472del (CAV3) | NP_203123.1:n.114+4472del | |
| XR_940435.1:n.330+4000del (SSUH2) | ||
| XM_017006530.1:c.-283+4000del (SSUH2) | XP_016862019.1:n.-283+4000del | |
| NM_001234.5:c.114+4472del (CAV3) | NP_001225.1:n.114+4472del | |
| NM_033337.3:c.114+4472del (CAV3) MANE Select | NP_203123.1:n.114+4472del |