Canonical Allele Identifier: CA1108082296
Gene: TRBC1 HGNC NCBI
PRSS1 HGNC NCBI
PRSS2 HGNC NCBI

Linked Data

gnomAD v3: 7-142753658-A-AAT
gnomAD v4: 7-142753658-A-AAT
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142753658_142753659insAT , CM000669.2:g.142753658_142753659insAT GRCh38
NC_000007.13:g.142461509_142461510insAT , CM000669.1:g.142461509_142461510insAT GRCh37
NC_000007.12:g.142141083_142141084insAT NCBI36
NG_008307.3:g.9175_9176insAT

Transcript Alleles

HGVS Amino-acid change
ENST00000610416.2:c.370+32472_370+32473insAT (TRBC1) ENSP00000482915.1:n.370+32472_370+32473insAT
ENST00000612126.4:c.591+1091_591+1092insAT (PRSS1) ENSP00000479959.1:n.591+1091_591+1092insAT
ENST00000633114.1:c.321+1764_321+1765insAT (PRSS2) ENSP00000487822.1:n.321+1764_321+1765insAT
ENST00000634019.1:c.82+4867_82+4868insAT (PRSS2) ENSP00000488594.1:n.82+4867_82+4868insAT
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