Canonical Allele Identifier: CA2749314504
Gene: PCARE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071018_29071019insACA , CM000664.2:g.29071018_29071019insACA GRCh38
NC_000002.11:g.29293884_29293885insACA , CM000664.1:g.29293884_29293885insACA GRCh37
NC_000002.10:g.29147388_29147389insACA NCBI36
NG_021427.1:g.8243_8244insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3243_3244insTGT MANE Select ENSP00000332809.4:p.Ser1081_Pro1082insCys
ENST00000331664.5:c.3243_3244insTGT ENSP00000332809.4:p.Ser1081_Pro1082insCys
NM_001029883.2:c.3243_3244insTGT NP_001025054.1:p.Ser1081_Pro1082insCys
XM_011532826.1:c.3243_3244insTGT XP_011531128.1:p.Ser1081_Pro1082insCys
XR_939901.1:n.185+1851_185+1852insACA
XR_939902.1:n.173+1863_173+1864insACA
NM_001029883.3:c.3243_3244insTGT MANE Select NP_001025054.1:p.Ser1081_Pro1082insCys