Canonical Allele Identifier: CA2749314481
Gene: PCARE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070719del , CM000664.2:g.29070719del GRCh38
NC_000002.11:g.29293585del , CM000664.1:g.29293585del GRCh37
NC_000002.10:g.29147089del NCBI36
NG_021427.1:g.8543del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3543del MANE Select ENSP00000332809.4:p.Cys1182ValfsTer?
ENST00000331664.5:c.3543del ENSP00000332809.4:p.Cys1182ValfsTer?
NM_001029883.2:c.3543del NP_001025054.1:p.Cys1182ValfsTer?
XM_011532826.1:c.3543del XP_011531128.1:p.Cys1182ValfsTer?
XR_939901.1:n.185+1552del
XR_939902.1:n.173+1564del
NM_001029883.3:c.3543del MANE Select NP_001025054.1:p.Cys1182ValfsTer?