Canonical Allele Identifier: CA1591895
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1390858
ClinVar RCV Id: RCV001891210
dbSNP Id: rs769723773
ExAC: 2:29293550 GTCC / G
gnomAD v2: 2-29293550-GTCC-G
gnomAD v3: 2-29070684-GTCC-G
gnomAD v4: 2-29070684-GTCC-G
MyVariant Identifiers: chr2:g.29293551_29293553del (hg19) chr2:g.29070685_29070687del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070689_29070691del , CM000664.2:g.29070689_29070691del GRCh38
NC_000002.11:g.29293555_29293557del , CM000664.1:g.29293555_29293557del GRCh37
NC_000002.10:g.29147059_29147061del NCBI36
NG_021427.1:g.8575_8577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3575_3577del MANE Select ENSP00000332809.4:p.Arg1192del
ENST00000331664.5:c.3575_3577del ENSP00000332809.4:p.Arg1192del
NM_001029883.2:c.3575_3577del NP_001025054.1:p.Arg1192del
XM_011532826.1:c.3575_3577del XP_011531128.1:p.Arg1192del
XR_939901.1:n.185+1522_185+1524del
XR_939902.1:n.173+1534_173+1536del
NM_001029883.3:c.3575_3577del MANE Select NP_001025054.1:p.Arg1192del
Search 100 bp 5'
Search 100 bp 3'