Canonical Allele Identifier: CA1241017287
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1667459673
gnomAD v3: 2-29070760-CT-C
gnomAD v4: 2-29070760-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070761del , CM000664.2:g.29070761del GRCh38
NC_000002.11:g.29293627del , CM000664.1:g.29293627del GRCh37
NC_000002.10:g.29147131del NCBI36
NG_021427.1:g.8501del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3501del MANE Select ENSP00000332809.4:p.Pro1169LeufsTer3
ENST00000331664.5:c.3501del ENSP00000332809.4:p.Pro1169LeufsTer3
NM_001029883.2:c.3501del NP_001025054.1:p.Pro1169LeufsTer3
XM_011532826.1:c.3501del XP_011531128.1:p.Pro1169LeufsTer3
XR_939901.1:n.185+1594del
XR_939902.1:n.173+1606del
NM_001029883.3:c.3501del MANE Select NP_001025054.1:p.Pro1169LeufsTer3
Search 100 bp 5'
Search 100 bp 3'