Canonical Allele Identifier: CA2576924623
Gene: PCARE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071350del , CM000664.2:g.29071350del GRCh38
NC_000002.11:g.29294216del , CM000664.1:g.29294216del GRCh37
NC_000002.10:g.29147720del NCBI36
NG_021427.1:g.7913del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.2913del MANE Select ENSP00000332809.4:p.Thr972ProfsTer?
ENST00000331664.5:c.2913del ENSP00000332809.4:p.Thr972ProfsTer?
NM_001029883.2:c.2913del NP_001025054.1:p.Thr972ProfsTer?
XM_011532826.1:c.2913del XP_011531128.1:p.Thr972ProfsTer?
XR_939901.1:n.185+2183del
XR_939902.1:n.173+2195del
NM_001029883.3:c.2913del MANE Select NP_001025054.1:p.Thr972ProfsTer?