Canonical Allele Identifier: CA531766647

Gene: PCARE

Linked Data

• ClinVar Variation Id: 1454885
• ClinVar RCV Id: RCV001962883
• dbSNP Id: rs138020654
• gnomAD v2: 2-29293861-T-TG
• gnomAD v3: 2-29070995-T-TG
• gnomAD v4: 2-29070995-T-TG
• MyVariant Identifiers: chr2:g.29293864_29293865insG (hg19) ; chr2:g.29293861_29293862insG (hg19) ; chr2:g.29070998_29070999insG (hg38) ; chr2:g.29070995_29070996insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070999dup , CM000664.2:g.29070999dup	GRCh38
NC_000002.11:g.29293865dup , CM000664.1:g.29293865dup	GRCh37
NC_000002.10:g.29147369dup	NCBI36
NG_021427.1:g.8266dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3266dup MANE Select	ENSP00000332809.4:p.Ser1090IlefsTer17
ENST00000331664.5:c.3266dup	ENSP00000332809.4:p.Ser1090IlefsTer17
NM_001029883.2:c.3266dup	NP_001025054.1:p.Ser1090IlefsTer17
XM_011532826.1:c.3266dup	XP_011531128.1:p.Ser1090IlefsTer17
XR_939901.1:n.185+1832dup
XR_939902.1:n.173+1844dup
NM_001029883.3:c.3266dup MANE Select	NP_001025054.1:p.Ser1090IlefsTer17