Canonical Allele Identifier: CA531766650
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1373350315
gnomAD v2: 2-29293912-GCT-G
gnomAD v3: 2-29071046-GCT-G
gnomAD v4: 2-29071046-GCT-G
MyVariant Identifiers: chr2:g.29293913_29293914del (hg19) chr2:g.29071047_29071048del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071047_29071048del , CM000664.2:g.29071047_29071048del GRCh38
NC_000002.11:g.29293913_29293914del , CM000664.1:g.29293913_29293914del GRCh37
NC_000002.10:g.29147417_29147418del NCBI36
NG_021427.1:g.8214_8215del

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.3214_3215del MANE Select ENSP00000332809.4:p.Ser1072ProfsTer?
ENST00000331664.5:c.3214_3215del ENSP00000332809.4:p.Ser1072ProfsTer?
NM_001029883.2:c.3214_3215del NP_001025054.1:p.Ser1072ProfsTer?
XM_011532826.1:c.3214_3215del XP_011531128.1:p.Ser1072ProfsTer?
XR_939901.1:n.185+1880_185+1881del
XR_939902.1:n.173+1892_173+1893del
NM_001029883.3:c.3214_3215del MANE Select NP_001025054.1:p.Ser1072ProfsTer?
Search 100 bp 5'
Search 100 bp 3'