Canonical Allele Identifier: CA4820932

Gene: POP1

Linked Data

• dbSNP Id: rs776270883
• ExAC: 8:99170334 AG / A
• gnomAD v2: 8-99170334-AG-A
• gnomAD v4: 8-98158106-AG-A
• MyVariant Identifiers: chr8:g.99170335del (hg19) ; chr8:g.98158107del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98158107del , CM000670.2:g.98158107del	GRCh38
NC_000008.10:g.99170335del , CM000670.1:g.99170335del	GRCh37
NC_000008.9:g.99239511del	NCBI36
NG_052869.1:g.45815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.2911del MANE Select	ENSP00000385787.2:p.Asp971IlefsTer17
ENST00000349693.3:c.2911del	ENSP00000339529.3:p.Asp971IlefsTer17
ENST00000401707.6:c.2911del	ENSP00000385787.2:p.Asp971IlefsTer17
NM_001145860.1:c.2911del	NP_001139332.1:p.Asp971IlefsTer17
NM_001145861.1:c.2911del	NP_001139333.1:p.Asp971IlefsTer17
NM_015029.2:c.2911del	NP_055844.2:p.Asp971IlefsTer17
NM_001145860.2:c.2911del MANE Select	NP_001139332.1:p.Asp971IlefsTer17
NM_001145861.2:c.2911del	NP_001139333.1:p.Asp971IlefsTer17
NM_015029.3:c.2911del	NP_055844.2:p.Asp971IlefsTer17