Canonical Allele Identifier: CA16616856
Gene: POP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 417737
ClinVar RCV Id: RCV000477720
dbSNP Id: rs1060505024

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98157803del , CM000670.2:g.98157803del GRCh38
NC_000008.10:g.99170031del , CM000670.1:g.99170031del GRCh37
NC_000008.9:g.99239207del NCBI36
NG_052869.1:g.45511del

Transcript Alleles

HGVS Amino-acid change
ENST00000401707.7:c.2607del MANE Select ENSP00000385787.2:p.Glu870SerfsTer5
ENST00000349693.3:c.2607del ENSP00000339529.3:p.Glu870SerfsTer5
ENST00000401707.6:c.2607del ENSP00000385787.2:p.Glu870SerfsTer5
NM_001145860.1:c.2607del NP_001139332.1:p.Glu870SerfsTer5
NM_001145861.1:c.2607del NP_001139333.1:p.Glu870SerfsTer5
NM_015029.2:c.2607del NP_055844.2:p.Glu870SerfsTer5
NM_001145860.2:c.2607del MANE Select NP_001139332.1:p.Glu870SerfsTer5
NM_001145861.2:c.2607del NP_001139333.1:p.Glu870SerfsTer5
NM_015029.3:c.2607del NP_055844.2:p.Glu870SerfsTer5