Canonical Allele Identifier: CA2580077657

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1787906
• ClinVar RCV Id: RCV002428061

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751794dup , CM000669.2:g.142751794dup	GRCh38
NC_000007.13:g.142459645dup , CM000669.1:g.142459645dup	GRCh37
NC_000007.12:g.142139219dup	NCBI36
NG_008307.3:g.7311dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.221dup (PRSS1) MANE Select	ENSP00000308720.7:p.Glu75ArgfsTer11
ENST00000311737.11:c.221dup (PRSS1)	ENSP00000308720.7:p.Glu75ArgfsTer11
ENST00000463701.1:n.685dup (PRSS1)
ENST00000485223.1:n.1219dup (PRSS1)
ENST00000486171.5:c.263dup (PRSS1)	ENSP00000417854.1:p.Glu89ArgfsTer11
ENST00000492062.1:c.71dup (PRSS1)	ENSP00000419912.1:p.Glu25ArgfsTer11
ENST00000610416.2:c.370+30608dup (TRBC1)	ENSP00000482915.1:n.370+30608dup
ENST00000612126.4:c.221dup (PRSS1)	ENSP00000479959.1:p.Glu75ArgfsTer11
ENST00000619214.4:c.221dup (PRSS1)	ENSP00000481361.1:p.Glu75ArgfsTer23
ENST00000633114.1:c.221dup (PRSS2)	ENSP00000487822.1:p.Glu75ArgfsTer11
ENST00000634019.1:c.82+3003dup (PRSS2)	ENSP00000488594.1:n.82+3003dup
NM_002769.4:c.221dup (PRSS1)	NP_002760.1:p.Glu75ArgfsTer11
XM_011516411.1:c.896dup (PRSS1)	XP_011514713.1:p.Glu300ArgfsTer11
NM_002769.5:c.221dup (PRSS1) MANE Select	NP_002760.1:p.Glu75ArgfsTer11
NR_172947.1:n.198-35dup (PRSS1)
NR_172948.1:n.198-38dup (PRSS1)
NR_172949.1:n.160dup (PRSS1)
NR_172950.1:n.74dup (PRSS1)
NR_172951.1:n.140-132dup (PRSS1)