Linked Data
dbSNP Id:
rs759005506
ExAC:
7:142459726 G / GCC
gnomAD v2:
7-142459726-G-GCC
gnomAD v4:
7-142751875-G-GCC
MyVariant Identifiers:
chr7:g.142459726_142459727insCC (hg19)
chr7:g.142751875_142751876insCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751875_142751876insCC , CM000669.2:g.142751875_142751876insCC | GRCh38 |
| NC_000007.13:g.142459726_142459727insCC , CM000669.1:g.142459726_142459727insCC | GRCh37 |
| NC_000007.12:g.142139300_142139301insCC | NCBI36 |
| NG_008307.3:g.7392_7393insCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311737.12:c.302_303insCC (PRSS1) MANE Select | ENSP00000308720.7:p.Arg101SerfsTer5 | |
| ENST00000311737.11:c.302_303insCC (PRSS1) | ENSP00000308720.7:p.Arg101SerfsTer5 | |
| ENST00000463701.1:n.766_767insCC (PRSS1) | ||
| ENST00000485223.1:n.1300_1301insCC (PRSS1) | ||
| ENST00000486171.5:c.344_345insCC (PRSS1) | ENSP00000417854.1:p.Arg115SerfsTer5 | |
| ENST00000492062.1:c.152_153insCC (PRSS1) | ENSP00000419912.1:p.Arg51SerfsTer5 | |
| ENST00000610416.2:c.370+30689_370+30690insCC (TRBC1) | ENSP00000482915.1:n.370+30689_370+30690in... | |
| ENST00000612126.4:c.302_303insCC (PRSS1) | ENSP00000479959.1:p.Arg101SerfsTer5 | |
| ENST00000619214.4:c.272_273insCC (PRSS1) | ENSP00000481361.1:p.Arg91SerfsTer5 | |
| ENST00000633114.1:c.302_303insCC (PRSS2) | ENSP00000487822.1:p.Arg101SerfsTer5 | |
| ENST00000634019.1:c.82+3084_82+3085insCC (PRSS2) | ENSP00000488594.1:n.82+3084_82+3085insCC | |
| NM_002769.4:c.302_303insCC (PRSS1) | NP_002760.1:p.Arg101SerfsTer5 | |
| XM_011516411.1:c.977_978insCC (PRSS1) | XP_011514713.1:p.Arg326SerfsTer5 | |
| NM_002769.5:c.302_303insCC (PRSS1) MANE Select | NP_002760.1:p.Arg101SerfsTer5 | |
| NR_172947.1:n.244_245insCC (PRSS1) | ||
| NR_172948.1:n.241_242insCC (PRSS1) | ||
| NR_172949.1:n.241_242insCC (PRSS1) | ||
| NR_172950.1:n.155_156insCC (PRSS1) | ||
| NR_172951.1:n.140-51_140-50insCC (PRSS1) |