Canonical Allele Identifier: CA2695215101

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951278_86951279dup , CM000673.2:g.86951278_86951279dup GRCh38
NC_000011.9:g.86662320_86662321dup , CM000673.1:g.86662320_86662321dup GRCh37
NC_000011.8:g.86339968_86339969dup NCBI36
NG_011752.1:g.9113_9114dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1477_1478dup (FZD4) MANE Select ENSP00000434034.1:p.Met493IlefsTer21
ENST00000528769.5:n.335_336dup (PRSS23)
ENST00000531380.1:c.1477_1478dup (FZD4) ENSP00000434034.1:p.Met493IlefsTer21
ENST00000531521.1:n.449_450dup (PRSS23)
ENST00000532234.5:c.*271_*272dup (PRSS23) ENSP00000436676.1:n.*271_*272dup
ENST00000533902.2:c.269_270dup (PRSS23) ENSP00000437268.1:p.Ala91MetfsTer?
NM_012193.3:c.1477_1478dup (FZD4) NP_036325.2:p.Met493IlefsTer21
NR_120591.1:n.943_944dup (PRSS23)
NR_120592.1:n.692_693dup (PRSS23)
NR_120591.2:n.641_642dup (PRSS23)
NR_120592.2:n.390_391dup (PRSS23)
NM_012193.4:c.1477_1478dup (FZD4) MANE Select NP_036325.2:p.Met493IlefsTer21
NR_120591.3:n.641_642dup (PRSS23)