Canonical Allele Identifier: CA2580085006

Linked Data

ClinVar Variation Id: 2018964
ClinVar RCV Id: RCV002870947

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951253_86951254del , CM000673.2:g.86951253_86951254del GRCh38
NC_000011.9:g.86662295_86662296del , CM000673.1:g.86662295_86662296del GRCh37
NC_000011.8:g.86339943_86339944del NCBI36
NG_011752.1:g.9138_9139del

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1502_1503del (FZD4) MANE Select ENSP00000434034.1:p.Leu501ProfsTer?
ENST00000528769.5:n.310_311del (PRSS23)
ENST00000531380.1:c.1502_1503del (FZD4) ENSP00000434034.1:p.Leu501ProfsTer?
ENST00000531521.1:n.424_425del (PRSS23)
ENST00000532234.5:c.*246_*247del (PRSS23) ENSP00000436676.1:n.*246_*247del
ENST00000533902.2:c.244_245del (PRSS23) ENSP00000437268.1:p.Lys82GlufsTer12
NM_012193.3:c.1502_1503del (FZD4) NP_036325.2:p.Leu501ProfsTer?
NR_120591.1:n.918_919del (PRSS23)
NR_120592.1:n.667_668del (PRSS23)
NR_120591.2:n.616_617del (PRSS23)
NR_120592.2:n.365_366del (PRSS23)
NM_012193.4:c.1502_1503del (FZD4) MANE Select NP_036325.2:p.Leu501ProfsTer?
NR_120591.3:n.616_617del (PRSS23)