Linked Data
dbSNP Id:
rs757329305
ExAC:
3:8775547 T / TC
gnomAD v2:
3-8775547-T-TC
gnomAD v3:
3-8733861-T-TC
gnomAD v4:
3-8733861-T-TC
COSMIC:
COSN23012804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8733867dup , CM000665.2:g.8733867dup | GRCh38 |
| NC_000003.11:g.8775553dup , CM000665.1:g.8775553dup | GRCh37 |
| NC_000003.10:g.8750553dup | NCBI36 |
| NG_008797.2:g.5058dup , LRG_329:g.5058dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.-10dup (CAV3) MANE Select | ENSP00000341940.2:n.-10dup | |
| ENST00000343849.2:c.-10dup (CAV3) | ENSP00000341940.2:n.-10dup | |
| ENST00000435138.5:c.64+8597dup (SSUH2) | ENSP00000412333.1:n.64+8597dup | |
| ENST00000472766.1:n.32dup (CAV3) | ||
| ENST00000478513.1:n.335+8597dup (SSUH2) | ||
| NM_001234.4:c.-10dup (CAV3) | NP_001225.1:n.-10dup | |
| NM_033337.2:c.-10dup , LRG_329t1:c.-10dup (CAV3) | NP_203123.1:n.-10dup | |
| XR_940435.1:n.330+8597dup (SSUH2) | ||
| XM_017006530.1:c.-283+8597dup (SSUH2) | XP_016862019.1:n.-283+8597dup | |
| NM_001234.5:c.-10dup (CAV3) | NP_001225.1:n.-10dup | |
| NM_033337.3:c.-10dup (CAV3) MANE Select | NP_203123.1:n.-10dup |