Canonical Allele Identifier: CA1108087355
Gene: PRSS1 HGNC NCBI
TRBC1 HGNC NCBI
PRSS2 HGNC NCBI

Linked Data

gnomAD v3: 7-142749738-A-AGT
gnomAD v4: 7-142749738-A-AGT
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142749738_142749739insGT , CM000669.2:g.142749738_142749739insGT GRCh38
NC_000007.13:g.142457589_142457590insGT , CM000669.1:g.142457589_142457590insGT GRCh37
NC_000007.12:g.142137163_142137164insGT NCBI36
NG_008307.3:g.5255_5256insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.40+214_40+215insGT (PRSS1) MANE Select ENSP00000308720.7:n.40+214_40+215insGT
ENST00000311737.11:c.40+214_40+215insGT (PRSS1) ENSP00000308720.7:n.40+214_40+215insGT
ENST00000485223.1:n.53+214_53+215insGT (PRSS1)
ENST00000486171.5:c.40+214_40+215insGT (PRSS1) ENSP00000417854.1:n.40+214_40+215insGT
ENST00000497041.1:n.44+214_44+215insGT (PRSS1)
ENST00000610416.2:c.370+28552_370+28553insGT (TRBC1) ENSP00000482915.1:n.370+28552_370+28553insGT
ENST00000612126.4:c.40+214_40+215insGT (PRSS1) ENSP00000479959.1:n.40+214_40+215insGT
ENST00000619214.4:c.40+214_40+215insGT (PRSS1) ENSP00000481361.1:n.40+214_40+215insGT
ENST00000633114.1:c.40+214_40+215insGT (PRSS2) ENSP00000487822.1:n.40+214_40+215insGT
ENST00000634019.1:c.82+947_82+948insGT (PRSS2) ENSP00000488594.1:n.82+947_82+948insGT
NM_002769.4:c.40+214_40+215insGT (PRSS1) NP_002760.1:n.40+214_40+215insGT
XM_011516411.1:c.715+214_715+215insGT (PRSS1) XP_011514713.1:n.715+214_715+215insGT
NM_002769.5:c.40+214_40+215insGT (PRSS1) MANE Select NP_002760.1:n.40+214_40+215insGT
NR_172947.1:n.53+214_53+215insGT (PRSS1)
NR_172948.1:n.53+214_53+215insGT (PRSS1)
NR_172949.1:n.53+214_53+215insGT (PRSS1)
NR_172950.1:n.53+214_53+215insGT (PRSS1)
NR_172951.1:n.53+214_53+215insGT (PRSS1)
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