Canonical Allele Identifier: CA531766653
Gene: PCARE HGNC NCBI

Linked Data

gnomAD v2: 2-29293951-A-AG
gnomAD v4: 2-29071085-A-AG
MyVariant Identifiers: chr2:g.29293951_29293952insG (hg19) chr2:g.29071085_29071086insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071088dup , CM000664.2:g.29071088dup GRCh38
NC_000002.11:g.29293954dup , CM000664.1:g.29293954dup GRCh37
NC_000002.10:g.29147458dup NCBI36
NG_021427.1:g.8176dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3176dup MANE Select ENSP00000332809.4:p.Pro1060SerfsTer?
ENST00000331664.5:c.3176dup ENSP00000332809.4:p.Pro1060SerfsTer?
NM_001029883.2:c.3176dup NP_001025054.1:p.Pro1060SerfsTer?
XM_011532826.1:c.3176dup XP_011531128.1:p.Pro1060SerfsTer?
XR_939901.1:n.185+1921dup
XR_939902.1:n.173+1933dup
NM_001029883.3:c.3176dup MANE Select NP_001025054.1:p.Pro1060SerfsTer?
Search 100 bp 5'
Search 100 bp 3'