Canonical Allele Identifier: CA1028802547
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1384376
ClinVar RCV Id: RCV001924818
dbSNP Id: rs1667458623
gnomAD v3: 2-29070721-G-GAGCTGC
gnomAD v4: 2-29070721-G-GAGCTGC
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070722_29070727dup , CM000664.2:g.29070722_29070727dup GRCh38
NC_000002.11:g.29293588_29293593dup , CM000664.1:g.29293588_29293593dup GRCh37
NC_000002.10:g.29147092_29147097dup NCBI36
NG_021427.1:g.8535_8540dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3535_3540dup MANE Select ENSP00000332809.4:p.Ala1180_Leu1181insAlaAla
ENST00000331664.5:c.3535_3540dup ENSP00000332809.4:p.Ala1180_Leu1181insAlaAla
NM_001029883.2:c.3535_3540dup NP_001025054.1:p.Ala1180_Leu1181insAlaAla
XM_011532826.1:c.3535_3540dup XP_011531128.1:p.Ala1180_Leu1181insAlaAla
XR_939901.1:n.185+1555_185+1560dup
XR_939902.1:n.173+1567_173+1572dup
NM_001029883.3:c.3535_3540dup MANE Select NP_001025054.1:p.Ala1180_Leu1181insAlaAla
Search 100 bp 5'
Search 100 bp 3'