Canonical Allele Identifier: CA1139656798

Gene: PCARE

Linked Data

• ClinVar Variation Id: 978989
• ClinVar RCV Id: RCV001257856
• dbSNP Id: rs1667517587
• gnomAD v4: 2-29072884-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29072887del , CM000664.2:g.29072887del	GRCh38
NC_000002.11:g.29295753del , CM000664.1:g.29295753del	GRCh37
NC_000002.10:g.29149257del	NCBI36
NG_021427.1:g.6377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.1377del MANE Select	ENSP00000332809.4:p.Phe459LeufsTer?
ENST00000331664.5:c.1377del	ENSP00000332809.4:p.Phe459LeufsTer?
NM_001029883.2:c.1377del	NP_001025054.1:p.Phe459LeufsTer?
XM_011532826.1:c.1377del	XP_011531128.1:p.Phe459LeufsTer?
XR_939901.1:n.185+3720del
XR_939902.1:n.173+3732del
NM_001029883.3:c.1377del MANE Select	NP_001025054.1:p.Phe459LeufsTer?