Canonical Allele Identifier: CA531766648
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1182853955
gnomAD v2: 2-29293887-T-TTGCTTCTGGGTGCTGGGTTGGGGGGCTGGGGACC
MyVariant Identifiers: chr2:g.29293887_29293888insTGCTTCTGGGTGCTGGGTTGGGGGGCTGGGGACC (hg19) chr2:g.29071021_29071022insTGCTTCTGGGTGCTGGGTTGGGGGGCTGGGGACC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071023_29071056dup , CM000664.2:g.29071023_29071056dup GRCh38
NC_000002.11:g.29293889_29293922dup , CM000664.1:g.29293889_29293922dup GRCh37
NC_000002.10:g.29147393_29147426dup NCBI36
NG_021427.1:g.8207_8240dup

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.3207_3240dup MANE Select ENSP00000332809.4:p.Ser1081GlyfsTer37
ENST00000331664.5:c.3207_3240dup ENSP00000332809.4:p.Ser1081GlyfsTer37
NM_001029883.2:c.3207_3240dup NP_001025054.1:p.Ser1081GlyfsTer37
XM_011532826.1:c.3207_3240dup XP_011531128.1:p.Ser1081GlyfsTer37
XR_939901.1:n.185+1856_185+1889dup
XR_939902.1:n.173+1868_173+1901dup
NM_001029883.3:c.3207_3240dup MANE Select NP_001025054.1:p.Ser1081GlyfsTer37
Search 100 bp 5'
Search 100 bp 3'