Linked Data
ClinVar Variation Id:
1804742
ClinVar RCV Id:
RCV002470039
dbSNP Id:
rs755493213
ExAC:
7:142458360 CT / C
gnomAD v2:
7-142458360-CT-C
gnomAD v3:
7-142750509-CT-C
gnomAD v4:
7-142750509-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142750510del , CM000669.2:g.142750510del | GRCh38 |
| NC_000007.13:g.142458361del , CM000669.1:g.142458361del | GRCh37 |
| NC_000007.12:g.142137935del | NCBI36 |
| NG_008307.3:g.6027del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.41-45del (PRSS1) MANE Select | ENSP00000308720.7:n.41-45del | |
| ENST00000311737.11:c.41-45del (PRSS1) | ENSP00000308720.7:n.41-45del | |
| ENST00000485223.1:n.54-119del (PRSS1) | ||
| ENST00000486171.5:c.41-45del (PRSS1) | ENSP00000417854.1:n.41-45del | |
| ENST00000497041.1:n.45-45del (PRSS1) | ||
| ENST00000610416.2:c.370+29324del (TRBC1) | ENSP00000482915.1:n.370+29324del | |
| ENST00000612126.4:c.41-45del (PRSS1) | ENSP00000479959.1:n.41-45del | |
| ENST00000619214.4:c.41-45del (PRSS1) | ENSP00000481361.1:n.41-45del | |
| ENST00000633114.1:c.41-45del (PRSS2) | ENSP00000487822.1:n.41-45del | |
| ENST00000634019.1:c.82+1719del (PRSS2) | ENSP00000488594.1:n.82+1719del | |
| NM_002769.4:c.41-45del (PRSS1) | NP_002760.1:n.41-45del | |
| XM_011516411.1:c.716-45del (PRSS1) | XP_011514713.1:n.716-45del | |
| NM_002769.5:c.41-45del (PRSS1) MANE Select | NP_002760.1:n.41-45del | |
| NR_172947.1:n.54-45del (PRSS1) | ||
| NR_172948.1:n.54-45del (PRSS1) | ||
| NR_172949.1:n.54-119del (PRSS1) | ||
| NR_172950.1:n.53+986del (PRSS1) | ||
| NR_172951.1:n.54-119del (PRSS1) |