Canonical Allele Identifier: CA2573134458
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1453214
ClinVar RCV Id: RCV002037858
dbSNP Id: rs2148416373
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072929dup , CM000664.2:g.29072929dup GRCh38
NC_000002.11:g.29295795dup , CM000664.1:g.29295795dup GRCh37
NC_000002.10:g.29149299dup NCBI36
NG_021427.1:g.6333dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1333dup MANE Select ENSP00000332809.4:p.Ser445PhefsTer13
ENST00000331664.5:c.1333dup ENSP00000332809.4:p.Ser445PhefsTer13
NM_001029883.2:c.1333dup NP_001025054.1:p.Ser445PhefsTer13
XM_011532826.1:c.1333dup XP_011531128.1:p.Ser445PhefsTer13
XR_939901.1:n.185+3762dup
XR_939902.1:n.173+3774dup
NM_001029883.3:c.1333dup MANE Select NP_001025054.1:p.Ser445PhefsTer13
Search 100 bp 5'
Search 100 bp 3'