Canonical Allele Identifier: CA2580611262
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1350516
ClinVar RCV Id: RCV002041920
dbSNP Id: rs2148414753
gnomAD v4: 2-29070719-CAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070722_29070723del , CM000664.2:g.29070722_29070723del GRCh38
NC_000002.11:g.29293588_29293589del , CM000664.1:g.29293588_29293589del GRCh37
NC_000002.10:g.29147092_29147093del NCBI36
NG_021427.1:g.8541_8542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3541_3542del MANE Select ENSP00000332809.4:p.Leu1181ValfsTer15
ENST00000331664.5:c.3541_3542del ENSP00000332809.4:p.Leu1181ValfsTer15
NM_001029883.2:c.3541_3542del NP_001025054.1:p.Leu1181ValfsTer15
XM_011532826.1:c.3541_3542del XP_011531128.1:p.Leu1181ValfsTer15
XR_939901.1:n.185+1555_185+1556del
XR_939902.1:n.173+1567_173+1568del
NM_001029883.3:c.3541_3542del MANE Select NP_001025054.1:p.Leu1181ValfsTer15
Search 100 bp 5'
Search 100 bp 3'