Linked Data
ClinVar Variation Id:
11882
ClinVar RCV Id:
RCV000012657
dbSNP Id:
rs267606982
MyVariant Identifiers:
chr7:g.142459789_142459790delinsAT (hg19)
chr7:g.142751938_142751939delinsAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751938_142751939delinsAT , CM000669.2:g.142751938_142751939delinsAT | GRCh38 |
| NC_000007.13:g.142459789_142459790delinsAT , CM000669.1:g.142459789_142459790delinsAT | GRCh37 |
| NC_000007.12:g.142139363_142139364delinsAT | NCBI36 |
| NG_008307.3:g.7455_7456delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.365_366delinsAT (PRSS1) MANE Select | ENSP00000308720.7:p.Arg122His | |
| ENST00000311737.11:c.365_366delinsAT (PRSS1) | ENSP00000308720.7:p.Arg122His | |
| ENST00000463701.1:n.829_830delinsAT (PRSS1) | ||
| ENST00000485223.1:n.1363_1364delinsAT (PRSS1) | ||
| ENST00000486171.5:c.407_408delinsAT (PRSS1) | ENSP00000417854.1:p.Arg136His | |
| ENST00000492062.1:c.215_216delinsAT (PRSS1) | ENSP00000419912.1:p.Arg72His | |
| ENST00000610416.2:c.370+30752_370+30753delinsAT (TRBC1) | ENSP00000482915.1:n.370+30752_370+30753delinsAT | |
| ENST00000612126.4:c.365_366delinsAT (PRSS1) | ENSP00000479959.1:p.Arg122His | |
| ENST00000619214.4:c.335_336delinsAT (PRSS1) | ENSP00000481361.1:p.Arg112His | |
| ENST00000633114.1:c.321+44_321+45delinsAT (PRSS2) | ENSP00000487822.1:n.321+44_321+45delinsAT | |
| ENST00000634019.1:c.82+3147_82+3148delinsAT (PRSS2) | ENSP00000488594.1:n.82+3147_82+3148delinsAT | |
| NM_002769.4:c.365_366delinsAT (PRSS1) | NP_002760.1:p.Arg122His | |
| XM_011516411.1:c.1040_1041delinsAT (PRSS1) | XP_011514713.1:p.Arg347His | |
| NM_002769.5:c.365_366delinsAT (PRSS1) MANE Select | NP_002760.1:p.Arg122His | |
| NR_172947.1:n.307_308delinsAT (PRSS1) | ||
| NR_172948.1:n.304_305delinsAT (PRSS1) | ||
| NR_172949.1:n.304_305delinsAT (PRSS1) | ||
| NR_172950.1:n.218_219delinsAT (PRSS1) | ||
| NR_172951.1:n.152_153delinsAT (PRSS1) |