Canonical Allele Identifier: CA578625843

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• dbSNP Id: rs1412279948
• gnomAD v2: 7-142458418-TTGA-T
• MyVariant Identifiers: chr7:g.142458419_142458421del (hg19) ; chr7:g.142750568_142750570del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142750577_142750579del , CM000669.2:g.142750577_142750579del	GRCh38
NC_000007.13:g.142458428_142458430del , CM000669.1:g.142458428_142458430del	GRCh37
NC_000007.12:g.142138002_142138004del	NCBI36
NG_008307.3:g.6094_6096del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311737.12:c.63_65del (PRSS1) MANE Select	ENSP00000308720.7:p.Asp22del
ENST00000311737.11:c.63_65del (PRSS1)	ENSP00000308720.7:p.Asp22del
ENST00000485223.1:n.54-52_54-50del (PRSS1)
ENST00000486171.5:c.63_65del (PRSS1)	ENSP00000417854.1:p.Asp22del
ENST00000497041.1:n.67_69del (PRSS1)
ENST00000610416.2:c.370+29391_370+29393del (TRBC1)	ENSP00000482915.1:n.370+29391_370+29393de...
ENST00000612126.4:c.63_65del (PRSS1)	ENSP00000479959.1:p.Asp22del
ENST00000619214.4:c.63_65del (PRSS1)	ENSP00000481361.1:p.Asp22del
ENST00000633114.1:c.63_65del (PRSS2)	ENSP00000487822.1:p.Asp22del
ENST00000634019.1:c.82+1786_82+1788del (PRSS2)	ENSP00000488594.1:n.82+1786_82+1788del
NM_002769.4:c.63_65del (PRSS1)	NP_002760.1:p.Asp22del
XM_011516411.1:c.738_740del (PRSS1)	XP_011514713.1:p.Asp247del
NM_002769.5:c.63_65del (PRSS1) MANE Select	NP_002760.1:p.Asp22del
NR_172947.1:n.76_78del (PRSS1)
NR_172948.1:n.76_78del (PRSS1)
NR_172949.1:n.54-52_54-50del (PRSS1)
NR_172950.1:n.53+1053_53+1055del (PRSS1)
NR_172951.1:n.54-52_54-50del (PRSS1)