Canonical Allele Identifier: CA1591900

Gene: PCARE

Linked Data

• ClinVar Variation Id: 1406599
• ClinVar RCV Id: RCV001935478
• dbSNP Id: rs773072098
• ExAC: 2:29293589 GCTGCTCTCCGCTGCGAGT / G
• gnomAD v2: 2-29293589-GCTGCTCTCCGCTGCGAGT-G
• gnomAD v3: 2-29070723-GCTGCTCTCCGCTGCGAGT-G
• gnomAD v4: 2-29070723-GCTGCTCTCCGCTGCGAGT-G
• MyVariant Identifiers: chr2:g.29293590_29293607del (hg19) ; chr2:g.29070724_29070741del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070732_29070749del , CM000664.2:g.29070732_29070749del	GRCh38
NC_000002.11:g.29293598_29293615del , CM000664.1:g.29293598_29293615del	GRCh37
NC_000002.10:g.29147102_29147119del	NCBI36
NG_021427.1:g.8521_8538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3521_3538del MANE Select	ENSP00000332809.4:p.Asp1174_Ala1179del
ENST00000331664.5:c.3521_3538del	ENSP00000332809.4:p.Asp1174_Ala1179del
NM_001029883.2:c.3521_3538del	NP_001025054.1:p.Asp1174_Ala1179del
XM_011532826.1:c.3521_3538del	XP_011531128.1:p.Asp1174_Ala1179del
XR_939901.1:n.185+1565_185+1582del
XR_939902.1:n.173+1577_173+1594del
NM_001029883.3:c.3521_3538del MANE Select	NP_001025054.1:p.Asp1174_Ala1179del