Canonical Allele Identifier: CA2749314525
Gene: PCARE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071285_29071292del , CM000664.2:g.29071285_29071292del GRCh38
NC_000002.11:g.29294151_29294158del , CM000664.1:g.29294151_29294158del GRCh37
NC_000002.10:g.29147655_29147662del NCBI36
NG_021427.1:g.7970_7977del

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.2970_2977del MANE Select ENSP00000332809.4:p.Arg992LeufsTer?
ENST00000331664.5:c.2970_2977del ENSP00000332809.4:p.Arg992LeufsTer?
NM_001029883.2:c.2970_2977del NP_001025054.1:p.Arg992LeufsTer?
XM_011532826.1:c.2970_2977del XP_011531128.1:p.Arg992LeufsTer?
XR_939901.1:n.185+2118_185+2125del
XR_939902.1:n.173+2130_173+2137del
NM_001029883.3:c.2970_2977del MANE Select NP_001025054.1:p.Arg992LeufsTer?