Canonical Allele Identifier: CA1108082263
Gene: TRBC1 HGNC NCBI
PRSS1 HGNC NCBI
PRSS2 HGNC NCBI

Linked Data

gnomAD v3: 7-142753656-G-A
gnomAD v4: 7-142753656-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142753656G>A , CM000669.2:g.142753656G>A GRCh38
NC_000007.13:g.142461507G>A , CM000669.1:g.142461507G>A GRCh37
NC_000007.12:g.142141081G>A NCBI36
NG_008307.3:g.9173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000610416.2:c.370+32470G>A (TRBC1) ENSP00000482915.1:n.370+32470G>A
ENST00000612126.4:c.591+1089G>A (PRSS1) ENSP00000479959.1:n.591+1089G>A
ENST00000633114.1:c.321+1762G>A (PRSS2) ENSP00000487822.1:n.321+1762G>A
ENST00000634019.1:c.82+4865G>A (PRSS2) ENSP00000488594.1:n.82+4865G>A
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