Canonical Allele Identifier: CA1028802610

Gene: PCARE

Linked Data

• dbSNP Id: rs1667462009
• gnomAD v3: 2-29070827-T-TG
• gnomAD v4: 2-29070827-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070831dup , CM000664.2:g.29070831dup	GRCh38
NC_000002.11:g.29293697dup , CM000664.1:g.29293697dup	GRCh37
NC_000002.10:g.29147201dup	NCBI36
NG_021427.1:g.8434dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3434dup MANE Select	ENSP00000332809.4:p.Pro1146ThrfsTer?
ENST00000331664.5:c.3434dup	ENSP00000332809.4:p.Pro1146ThrfsTer?
NM_001029883.2:c.3434dup	NP_001025054.1:p.Pro1146ThrfsTer?
XM_011532826.1:c.3434dup	XP_011531128.1:p.Pro1146ThrfsTer?
XR_939901.1:n.185+1664dup
XR_939902.1:n.173+1676dup
NM_001029883.3:c.3434dup MANE Select	NP_001025054.1:p.Pro1146ThrfsTer?