Linked Data
dbSNP Id:
rs1210378225
gnomAD v3:
7-142752118-GGCTTAA-G
gnomAD v4:
7-142752118-GGCTTAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142752120_142752125del , CM000669.2:g.142752120_142752125del | GRCh38 |
| NC_000007.13:g.142459971_142459976del , CM000669.1:g.142459971_142459976del | GRCh37 |
| NC_000007.12:g.142139545_142139550del | NCBI36 |
| NG_008307.3:g.7637_7642del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.454+93_454+98del (PRSS1) MANE Select | ENSP00000308720.7:n.454+93_454+98del | |
| ENST00000311737.11:c.454+93_454+98del (PRSS1) | ENSP00000308720.7:n.454+93_454+98del | |
| ENST00000463701.1:n.918+93_918+98del (PRSS1) | ||
| ENST00000486171.5:c.496+93_496+98del (PRSS1) | ENSP00000417854.1:n.496+93_496+98del | |
| ENST00000492062.1:c.304+93_304+98del (PRSS1) | ENSP00000419912.1:n.304+93_304+98del | |
| ENST00000610416.2:c.370+30934_370+30939del (TRBC1) | ENSP00000482915.1:n.370+30934_370+30939del | |
| ENST00000612126.4:c.454+93_454+98del (PRSS1) | ENSP00000479959.1:n.454+93_454+98del | |
| ENST00000619214.4:c.424+93_424+98del (PRSS1) | ENSP00000481361.1:n.424+93_424+98del | |
| ENST00000633114.1:c.321+226_321+231del (PRSS2) | ENSP00000487822.1:n.321+226_321+231del | |
| ENST00000634019.1:c.82+3329_82+3334del (PRSS2) | ENSP00000488594.1:n.82+3329_82+3334del | |
| NM_002769.4:c.454+93_454+98del (PRSS1) | NP_002760.1:n.454+93_454+98del | |
| XM_011516411.1:c.1129+93_1129+98del (PRSS1) | XP_011514713.1:n.1129+93_1129+98del | |
| NM_002769.5:c.454+93_454+98del (PRSS1) MANE Select | NP_002760.1:n.454+93_454+98del | |
| NR_172947.1:n.396+93_396+98del (PRSS1) | ||
| NR_172948.1:n.393+93_393+98del (PRSS1) | ||
| NR_172949.1:n.393+93_393+98del (PRSS1) | ||
| NR_172950.1:n.307+93_307+98del (PRSS1) | ||
| NR_172951.1:n.241+93_241+98del (PRSS1) |