Canonical Allele Identifier: CA2749314524
Gene: PCARE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071115_29071116insAGATCG , CM000664.2:g.29071115_29071116insAGATCG GRCh38
NC_000002.11:g.29293981_29293982insAGATCG , CM000664.1:g.29293981_29293982insAGATCG GRCh37
NC_000002.10:g.29147485_29147486insAGATCG NCBI36
NG_021427.1:g.8147_8148insGATCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3147_3148insGATCTC MANE Select ENSP00000332809.4:p.Ser1049_Pro1050insAspLeu
ENST00000331664.5:c.3147_3148insGATCTC ENSP00000332809.4:p.Ser1049_Pro1050insAspLeu
NM_001029883.2:c.3147_3148insGATCTC NP_001025054.1:p.Ser1049_Pro1050insAspLeu
XM_011532826.1:c.3147_3148insGATCTC XP_011531128.1:p.Ser1049_Pro1050insAspLeu
XR_939901.1:n.185+1948_185+1949insAGATCG
XR_939902.1:n.173+1960_173+1961insAGATCG
NM_001029883.3:c.3147_3148insGATCTC MANE Select NP_001025054.1:p.Ser1049_Pro1050insAspLeu