Canonical Allele Identifier: CA256109

Linked Data

ClinVar Variation Id: 11882
ClinVar RCV Id: RCV000012657
dbSNP Id: rs267606982

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)