Canonical Allele Identifier: CA857453209

Gene: POP1

Linked Data

• dbSNP Id: rs1406704778
• gnomAD v3: 8-98157789-A-AG
• gnomAD v4: 8-98157789-A-AG
• MyVariant Identifiers: chr8:g.99170017_99170018insG (hg19) ; chr8:g.98157789_98157790insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98157790dup , CM000670.2:g.98157790dup	GRCh38
NC_000008.10:g.99170018dup , CM000670.1:g.99170018dup	GRCh37
NC_000008.9:g.99239194dup	NCBI36
NG_052869.1:g.45498dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.2594dup MANE Select	ENSP00000385787.2:p.Ser865ArgfsTer24
ENST00000349693.3:c.2594dup	ENSP00000339529.3:p.Ser865ArgfsTer24
ENST00000401707.6:c.2594dup	ENSP00000385787.2:p.Ser865ArgfsTer24
NM_001145860.1:c.2594dup	NP_001139332.1:p.Ser865ArgfsTer24
NM_001145861.1:c.2594dup	NP_001139333.1:p.Ser865ArgfsTer24
NM_015029.2:c.2594dup	NP_055844.2:p.Ser865ArgfsTer24
NM_001145860.2:c.2594dup MANE Select	NP_001139332.1:p.Ser865ArgfsTer24
NM_001145861.2:c.2594dup	NP_001139333.1:p.Ser865ArgfsTer24
NM_015029.3:c.2594dup	NP_055844.2:p.Ser865ArgfsTer24