Canonical Allele Identifier: CA834454447

Linked Data

dbSNP Id: rs1299147964

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142752216_142752217del , CM000669.2:g.142752216_142752217del GRCh38
NC_000007.13:g.142460067_142460068del , CM000669.1:g.142460067_142460068del GRCh37
NC_000007.12:g.142139641_142139642del NCBI36
NG_008307.3:g.7733_7734del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.454+189_454+190del (PRSS1) MANE Select ENSP00000308720.7:n.454+189_454+190del
ENST00000311737.11:c.454+189_454+190del (PRSS1) ENSP00000308720.7:n.454+189_454+190del
ENST00000463701.1:n.918+189_918+190del (PRSS1)
ENST00000486171.5:c.496+189_496+190del (PRSS1) ENSP00000417854.1:n.496+189_496+190del
ENST00000492062.1:c.304+189_304+190del (PRSS1) ENSP00000419912.1:n.304+189_304+190del
ENST00000610416.2:c.370+31030_370+31031del (TRBC1) ENSP00000482915.1:n.370+31030_370+31031del
ENST00000612126.4:c.454+189_454+190del (PRSS1) ENSP00000479959.1:n.454+189_454+190del
ENST00000619214.4:c.424+189_424+190del (PRSS1) ENSP00000481361.1:n.424+189_424+190del
ENST00000633114.1:c.321+322_321+323del (PRSS2) ENSP00000487822.1:n.321+322_321+323del
ENST00000634019.1:c.82+3425_82+3426del (PRSS2) ENSP00000488594.1:n.82+3425_82+3426del
NM_002769.4:c.454+189_454+190del (PRSS1) NP_002760.1:n.454+189_454+190del
XM_011516411.1:c.1129+189_1129+190del (PRSS1) XP_011514713.1:n.1129+189_1129+190del
NM_002769.5:c.454+189_454+190del (PRSS1) MANE Select NP_002760.1:n.454+189_454+190del
NR_172947.1:n.396+189_396+190del (PRSS1)
NR_172948.1:n.393+189_393+190del (PRSS1)
NR_172949.1:n.393+189_393+190del (PRSS1)
NR_172950.1:n.307+189_307+190del (PRSS1)
NR_172951.1:n.241+189_241+190del (PRSS1)