Canonical Allele Identifier: CA834446667
Gene: TRBC1 HGNC NCBI
PRSS1 HGNC NCBI
PRSS2 HGNC NCBI

Linked Data

dbSNP Id: rs1366009104
gnomAD v3: 7-142753766-GC-G
gnomAD v4: 7-142753766-GC-G
MyVariant Identifiers: chr7:g.142461618del (hg19) chr7:g.142753767del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142753767del , CM000669.2:g.142753767del GRCh38
NC_000007.13:g.142461618del , CM000669.1:g.142461618del GRCh37
NC_000007.12:g.142141192del NCBI36
NG_008307.3:g.9284del

Transcript Alleles

HGVS Amino-acid change
ENST00000610416.2:c.370+32581del (TRBC1) ENSP00000482915.1:n.370+32581del
ENST00000612126.4:c.591+1200del (PRSS1) ENSP00000479959.1:n.591+1200del
ENST00000633114.1:c.321+1873del (PRSS2) ENSP00000487822.1:n.321+1873del
ENST00000634019.1:c.82+4976del (PRSS2) ENSP00000488594.1:n.82+4976del
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