Canonical Allele Identifier: CA767532843
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1489627980
gnomAD v3: 2-29072924-T-TG
gnomAD v4: 2-29072924-T-TG
MyVariant Identifiers: chr2:g.29295790_29295791insG (hg19) chr2:g.29072924_29072925insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072928dup , CM000664.2:g.29072928dup GRCh38
NC_000002.11:g.29295794dup , CM000664.1:g.29295794dup GRCh37
NC_000002.10:g.29149298dup NCBI36
NG_021427.1:g.6337dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1337dup MANE Select ENSP00000332809.4:p.Pro447ThrfsTer11
ENST00000331664.5:c.1337dup ENSP00000332809.4:p.Pro447ThrfsTer11
NM_001029883.2:c.1337dup NP_001025054.1:p.Pro447ThrfsTer11
XM_011532826.1:c.1337dup XP_011531128.1:p.Pro447ThrfsTer11
XR_939901.1:n.185+3761dup
XR_939902.1:n.173+3773dup
NM_001029883.3:c.1337dup MANE Select NP_001025054.1:p.Pro447ThrfsTer11
Search 100 bp 5'
Search 100 bp 3'