Canonical Allele Identifier: CA2586968900
Gene: PCARE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070946_29070947del , CM000664.2:g.29070946_29070947del GRCh38
NC_000002.11:g.29293812_29293813del , CM000664.1:g.29293812_29293813del GRCh37
NC_000002.10:g.29147316_29147317del NCBI36
NG_021427.1:g.8315_8316del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3315_3316del MANE Select ENSP00000332809.4:p.Glu1106ArgfsTer26
ENST00000331664.5:c.3315_3316del ENSP00000332809.4:p.Glu1106ArgfsTer26
NM_001029883.2:c.3315_3316del NP_001025054.1:p.Glu1106ArgfsTer26
XM_011532826.1:c.3315_3316del XP_011531128.1:p.Glu1106ArgfsTer26
XR_939901.1:n.185+1779_185+1780del
XR_939902.1:n.173+1791_173+1792del
NM_001029883.3:c.3315_3316del MANE Select NP_001025054.1:p.Glu1106ArgfsTer26