Canonical Allele Identifier: CA2580077613

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1739994
• ClinVar RCV Id: RCV002332331

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142752008del , CM000669.2:g.142752008del	GRCh38
NC_000007.13:g.142459859del , CM000669.1:g.142459859del	GRCh37
NC_000007.12:g.142139433del	NCBI36
NG_008307.3:g.7525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.435del (PRSS1) MANE Select	ENSP00000308720.7:p.Asn146ThrfsTer21
ENST00000311737.11:c.435del (PRSS1)	ENSP00000308720.7:p.Asn146ThrfsTer21
ENST00000463701.1:n.899del (PRSS1)
ENST00000485223.1:n.1433del (PRSS1)
ENST00000486171.5:c.477del (PRSS1)	ENSP00000417854.1:p.Asn160ThrfsTer21
ENST00000492062.1:c.285del (PRSS1)	ENSP00000419912.1:p.Asn96ThrfsTer21
ENST00000610416.2:c.370+30822del (TRBC1)	ENSP00000482915.1:n.370+30822del
ENST00000612126.4:c.435del (PRSS1)	ENSP00000479959.1:p.Asn146ThrfsTer21
ENST00000619214.4:c.405del (PRSS1)	ENSP00000481361.1:p.Asn136ThrfsTer21
ENST00000633114.1:c.321+114del (PRSS2)	ENSP00000487822.1:n.321+114del
ENST00000634019.1:c.82+3217del (PRSS2)	ENSP00000488594.1:n.82+3217del
NM_002769.4:c.435del (PRSS1)	NP_002760.1:p.Asn146ThrfsTer21
XM_011516411.1:c.1110del (PRSS1)	XP_011514713.1:p.Asn371ThrfsTer21
NM_002769.5:c.435del (PRSS1) MANE Select	NP_002760.1:p.Asn146ThrfsTer21
NR_172947.1:n.377del (PRSS1)
NR_172948.1:n.374del (PRSS1)
NR_172949.1:n.374del (PRSS1)
NR_172950.1:n.288del (PRSS1)
NR_172951.1:n.222del (PRSS1)