Canonical Allele Identifier: CA146999

Gene: PCARE

Linked Data

• ClinVar Variation Id: 93474
• ClinVar RCV Id: RCV000079372 ; RCV000963259 ; RCV003597962
• dbSNP Id: rs138020654
• ExAC: 2:29293861 TGGG / T
• gnomAD v2: 2-29293861-TGGG-T
• gnomAD v3: 2-29070995-TGGG-T
• gnomAD v4: 2-29070995-TGGG-T
• COSMIC: COSM1683842
• MyVariant Identifiers: chr2:g.29293862_29293864del (hg19) ; chr2:g.29293862_29293864delGGG (hg19) ; chr2:g.29070997_29070999del (hg38) ; chr2:g.29070996_29070998del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070997_29070999del , CM000664.2:g.29070997_29070999del	GRCh38
NC_000002.11:g.29293863_29293865del , CM000664.1:g.29293863_29293865del	GRCh37
NC_000002.10:g.29147367_29147369del	NCBI36
NG_021427.1:g.8264_8266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3264_3266del MANE Select	ENSP00000332809.4:p.Pro1089del
ENST00000331664.5:c.3264_3266del	ENSP00000332809.4:p.Pro1089del
NM_001029883.2:c.3264_3266del	NP_001025054.1:p.Pro1089del
XM_011532826.1:c.3264_3266del	XP_011531128.1:p.Pro1089del
XR_939901.1:n.185+1830_185+1832del
XR_939902.1:n.173+1842_173+1844del
NM_001029883.3:c.3264_3266del MANE Select	NP_001025054.1:p.Pro1089del