Canonical Allele Identifier: CA2749314511
Gene: PCARE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071027_29071028insACA , CM000664.2:g.29071027_29071028insACA GRCh38
NC_000002.11:g.29293893_29293894insACA , CM000664.1:g.29293893_29293894insACA GRCh37
NC_000002.10:g.29147397_29147398insACA NCBI36
NG_021427.1:g.8234_8235insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3234_3235insTGT MANE Select ENSP00000332809.4:p.Pro1078_Glu1079insCys
ENST00000331664.5:c.3234_3235insTGT ENSP00000332809.4:p.Pro1078_Glu1079insCys
NM_001029883.2:c.3234_3235insTGT NP_001025054.1:p.Pro1078_Glu1079insCys
XM_011532826.1:c.3234_3235insTGT XP_011531128.1:p.Pro1078_Glu1079insCys
XR_939901.1:n.185+1860_185+1861insACA
XR_939902.1:n.173+1872_173+1873insACA
NM_001029883.3:c.3234_3235insTGT MANE Select NP_001025054.1:p.Pro1078_Glu1079insCys