Canonical Allele Identifier: CA531766654
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1188070506
gnomAD v2: 2-29293998-T-TG
gnomAD v4: 2-29071132-T-TG
MyVariant Identifiers: chr2:g.29293998_29293999insG (hg19) chr2:g.29071132_29071133insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071134dup , CM000664.2:g.29071134dup GRCh38
NC_000002.11:g.29294000dup , CM000664.1:g.29294000dup GRCh37
NC_000002.10:g.29147504dup NCBI36
NG_021427.1:g.8129dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3129dup MANE Select ENSP00000332809.4:p.Thr1044HisfsTer?
ENST00000331664.5:c.3129dup ENSP00000332809.4:p.Thr1044HisfsTer?
NM_001029883.2:c.3129dup NP_001025054.1:p.Thr1044HisfsTer?
XM_011532826.1:c.3129dup XP_011531128.1:p.Thr1044HisfsTer?
XR_939901.1:n.185+1967dup
XR_939902.1:n.173+1979dup
NM_001029883.3:c.3129dup MANE Select NP_001025054.1:p.Thr1044HisfsTer?
Search 100 bp 5'
Search 100 bp 3'