Canonical Allele Identifier: CA2749314482
Gene: PCARE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070721_29070722insT , CM000664.2:g.29070721_29070722insT GRCh38
NC_000002.11:g.29293587_29293588insT , CM000664.1:g.29293587_29293588insT GRCh37
NC_000002.10:g.29147091_29147092insT NCBI36
NG_021427.1:g.8540_8541insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3540_3541insA MANE Select ENSP00000332809.4:p.Leu1181ThrfsTer16
ENST00000331664.5:c.3540_3541insA ENSP00000332809.4:p.Leu1181ThrfsTer16
NM_001029883.2:c.3540_3541insA NP_001025054.1:p.Leu1181ThrfsTer16
XM_011532826.1:c.3540_3541insA XP_011531128.1:p.Leu1181ThrfsTer16
XR_939901.1:n.185+1554_185+1555insT
XR_939902.1:n.173+1566_173+1567insT
NM_001029883.3:c.3540_3541insA MANE Select NP_001025054.1:p.Leu1181ThrfsTer16