Canonical Allele Identifier: CA1028802918

Gene: PCARE

Linked Data

• dbSNP Id: rs1667475166
• gnomAD v3: 2-29071275-G-GGA
• gnomAD v4: 2-29071275-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071279_29071280dup , CM000664.2:g.29071279_29071280dup	GRCh38
NC_000002.11:g.29294145_29294146dup , CM000664.1:g.29294145_29294146dup	GRCh37
NC_000002.10:g.29147649_29147650dup	NCBI36
NG_021427.1:g.7985_7986dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000331664.6:c.2985_2986dup MANE Select	ENSP00000332809.4:p.Pro996LeufsTer?
ENST00000331664.5:c.2985_2986dup	ENSP00000332809.4:p.Pro996LeufsTer?
NM_001029883.2:c.2985_2986dup	NP_001025054.1:p.Pro996LeufsTer?
XM_011532826.1:c.2985_2986dup	XP_011531128.1:p.Pro996LeufsTer?
XR_939901.1:n.185+2112_185+2113dup
XR_939902.1:n.173+2124_173+2125dup
NM_001029883.3:c.2985_2986dup MANE Select	NP_001025054.1:p.Pro996LeufsTer?