Canonical Allele Identifier: CA1591848

Gene: PCARE

Linked Data

• ClinVar Variation Id: 335637
• ClinVar RCV Id: RCV000278051 ; RCV000382560 ; RCV000986607 ; RCV001511102 ; RCV003888792
• ExAC: 2:29287926 C / CGCT
• gnomAD v2: 2-29287926-C-CGCT
• gnomAD v3: 2-29065060-C-CGCT
• gnomAD v4: 2-29065060-C-CGCT
• COSMIC: COSM112139 ; COSM1683598
• MyVariant Identifiers: chr2:g.29287927_29287929dupGCT (hg19) ; chr2:g.29287937_29287938insTGC (hg19) ; chr2:g.29287929_29287930insGCT (hg19) ; chr2:g.29287926_29287927insGCT (hg19) ; chr2:g.29065061_29065063dupGCT (hg38) ; chr2:g.29065071_29065072insTGC (hg38) ; chr2:g.29065063_29065064insGCT (hg38) ; chr2:g.29065060_29065061insGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29065069_29065071dup , CM000664.2:g.29065069_29065071dup	GRCh38
NC_000002.11:g.29287935_29287937dup , CM000664.1:g.29287935_29287937dup	GRCh37
NC_000002.10:g.29141439_29141441dup	NCBI36
NG_021427.1:g.14199_14201dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3673_3675dup
ENST00000331664.5:c.3673_3675dup
NM_001029883.2:c.3673_3675dup
XM_011532826.1:c.3673_3675dup
XR_939901.1:n.69+1174_69+1176dup
XR_939902.1:n.69+1174_69+1176dup
NM_001029883.3:c.3673_3675dup