Canonical Allele Identifier: CA2658448140

Gene: PCARE

Linked Data

• gnomAD v4: 2-29070672-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070674del , CM000664.2:g.29070674del	GRCh38
NC_000002.11:g.29293540del , CM000664.1:g.29293540del	GRCh37
NC_000002.10:g.29147044del	NCBI36
NG_021427.1:g.8589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3589del MANE Select	ENSP00000332809.4:p.Arg1197AlafsTer?
ENST00000331664.5:c.3589del	ENSP00000332809.4:p.Arg1197AlafsTer?
NM_001029883.2:c.3589del	NP_001025054.1:p.Arg1197AlafsTer?
XM_011532826.1:c.3589del	XP_011531128.1:p.Arg1197AlafsTer?
XR_939901.1:n.185+1507del
XR_939902.1:n.173+1519del
NM_001029883.3:c.3589del MANE Select	NP_001025054.1:p.Arg1197AlafsTer?