Canonical Allele Identifier: CA2658448192

Gene: PCARE

Linked Data

• gnomAD v4: 2-29070693-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070695del , CM000664.2:g.29070695del	GRCh38
NC_000002.11:g.29293561del , CM000664.1:g.29293561del	GRCh37
NC_000002.10:g.29147065del	NCBI36
NG_021427.1:g.8568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3568del MANE Select	ENSP00000332809.4:p.Leu1190SerfsTer?
ENST00000331664.5:c.3568del	ENSP00000332809.4:p.Leu1190SerfsTer?
NM_001029883.2:c.3568del	NP_001025054.1:p.Leu1190SerfsTer?
XM_011532826.1:c.3568del	XP_011531128.1:p.Leu1190SerfsTer?
XR_939901.1:n.185+1528del
XR_939902.1:n.173+1540del
NM_001029883.3:c.3568del MANE Select	NP_001025054.1:p.Leu1190SerfsTer?