Canonical Allele Identifier: CA2749314517
Gene: PCARE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071039_29071040insACA , CM000664.2:g.29071039_29071040insACA GRCh38
NC_000002.11:g.29293905_29293906insACA , CM000664.1:g.29293905_29293906insACA GRCh37
NC_000002.10:g.29147409_29147410insACA NCBI36
NG_021427.1:g.8222_8223insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3222_3223insTGT MANE Select ENSP00000332809.4:p.Pro1074_Thr1075insCys
ENST00000331664.5:c.3222_3223insTGT ENSP00000332809.4:p.Pro1074_Thr1075insCys
NM_001029883.2:c.3222_3223insTGT NP_001025054.1:p.Pro1074_Thr1075insCys
XM_011532826.1:c.3222_3223insTGT XP_011531128.1:p.Pro1074_Thr1075insCys
XR_939901.1:n.185+1872_185+1873insACA
XR_939902.1:n.173+1884_173+1885insACA
NM_001029883.3:c.3222_3223insTGT MANE Select NP_001025054.1:p.Pro1074_Thr1075insCys