Canonical Allele Identifier: CA2658448571

Gene: PCARE

Linked Data

• gnomAD v4: 2-29070808-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070811_29070812del , CM000664.2:g.29070811_29070812del	GRCh38
NC_000002.11:g.29293677_29293678del , CM000664.1:g.29293677_29293678del	GRCh37
NC_000002.10:g.29147181_29147182del	NCBI36
NG_021427.1:g.8452_8453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3452_3453del MANE Select	ENSP00000332809.4:p.Glu1151GlyfsTer?
ENST00000331664.5:c.3452_3453del	ENSP00000332809.4:p.Glu1151GlyfsTer?
NM_001029883.2:c.3452_3453del	NP_001025054.1:p.Glu1151GlyfsTer?
XM_011532826.1:c.3452_3453del	XP_011531128.1:p.Glu1151GlyfsTer?
XR_939901.1:n.185+1644_185+1645del
XR_939902.1:n.173+1656_173+1657del
NM_001029883.3:c.3452_3453del MANE Select	NP_001025054.1:p.Glu1151GlyfsTer?