Canonical Allele Identifier: CA1591982
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs754349082
ExAC: 2:29293879 AGG / A
gnomAD v2: 2-29293879-AGG-A
gnomAD v4: 2-29071013-AGG-A
MyVariant Identifiers: chr2:g.29293880_29293881del (hg19) chr2:g.29071014_29071015del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071018_29071019del , CM000664.2:g.29071018_29071019del GRCh38
NC_000002.11:g.29293884_29293885del , CM000664.1:g.29293884_29293885del GRCh37
NC_000002.10:g.29147388_29147389del NCBI36
NG_021427.1:g.8247_8248del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3247_3248del MANE Select ENSP00000332809.4:p.Pro1083PhefsTer23
ENST00000331664.5:c.3247_3248del ENSP00000332809.4:p.Pro1083PhefsTer23
NM_001029883.2:c.3247_3248del NP_001025054.1:p.Pro1083PhefsTer23
XM_011532826.1:c.3247_3248del XP_011531128.1:p.Pro1083PhefsTer23
XR_939901.1:n.185+1851_185+1852del
XR_939902.1:n.173+1863_173+1864del
NM_001029883.3:c.3247_3248del MANE Select NP_001025054.1:p.Pro1083PhefsTer23
Search 100 bp 5'
Search 100 bp 3'