Canonical Allele Identifier: CA2576924630
Gene: PCARE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072917del , CM000664.2:g.29072917del GRCh38
NC_000002.11:g.29295783del , CM000664.1:g.29295783del GRCh37
NC_000002.10:g.29149287del NCBI36
NG_021427.1:g.6346del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1346del MANE Select ENSP00000332809.4:p.Lys449SerfsTer?
ENST00000331664.5:c.1346del ENSP00000332809.4:p.Lys449SerfsTer?
NM_001029883.2:c.1346del NP_001025054.1:p.Lys449SerfsTer?
XM_011532826.1:c.1346del XP_011531128.1:p.Lys449SerfsTer?
XR_939901.1:n.185+3750del
XR_939902.1:n.173+3762del
NM_001029883.3:c.1346del MANE Select NP_001025054.1:p.Lys449SerfsTer?