Canonical Allele Identifier: CA2573141794

Linked Data

ClinVar Variation Id: 1410426
ClinVar RCV Id: RCV001928054

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751975_142751976delinsTG , CM000669.2:g.142751975_142751976delinsTG GRCh38
NC_000007.13:g.142459826_142459827delinsTG , CM000669.1:g.142459826_142459827delinsTG GRCh37
NC_000007.12:g.142139400_142139401delinsTG NCBI36
NG_008307.3:g.7492_7493delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.402_403delinsTG (PRSS1) MANE Select ENSP00000308720.7:p.Thr135Ala
ENST00000311737.11:c.402_403delinsTG (PRSS1) ENSP00000308720.7:p.Thr135Ala
ENST00000463701.1:n.866_867delinsTG (PRSS1)
ENST00000485223.1:n.1400_1401delinsTG (PRSS1)
ENST00000486171.5:c.444_445delinsTG (PRSS1) ENSP00000417854.1:p.Thr149Ala
ENST00000492062.1:c.252_253delinsTG (PRSS1) ENSP00000419912.1:p.Thr85Ala
ENST00000610416.2:c.370+30789_370+30790delinsTG (TRBC1) ENSP00000482915.1:n.370+30789_370+30790delinsTG
ENST00000612126.4:c.402_403delinsTG (PRSS1) ENSP00000479959.1:p.Thr135Ala
ENST00000619214.4:c.372_373delinsTG (PRSS1) ENSP00000481361.1:p.Thr125Ala
ENST00000633114.1:c.321+81_321+82delinsTG (PRSS2) ENSP00000487822.1:n.321+81_321+82delinsTG
ENST00000634019.1:c.82+3184_82+3185delinsTG (PRSS2) ENSP00000488594.1:n.82+3184_82+3185delinsTG
NM_002769.4:c.402_403delinsTG (PRSS1) NP_002760.1:p.Thr135Ala
XM_011516411.1:c.1077_1078delinsTG (PRSS1) XP_011514713.1:p.Thr360Ala
NM_002769.5:c.402_403delinsTG (PRSS1) MANE Select NP_002760.1:p.Thr135Ala
NR_172947.1:n.344_345delinsTG (PRSS1)
NR_172948.1:n.341_342delinsTG (PRSS1)
NR_172949.1:n.341_342delinsTG (PRSS1)
NR_172950.1:n.255_256delinsTG (PRSS1)
NR_172951.1:n.189_190delinsTG (PRSS1)