Canonical Allele Identifier: CA857453338

Gene: POP1

Linked Data

• dbSNP Id: rs1209314821
• gnomAD v4: 8-98157844-TC-T
• MyVariant Identifiers: chr8:g.99170073del (hg19) ; chr8:g.98157845del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98157846del , CM000670.2:g.98157846del	GRCh38
NC_000008.10:g.99170074del , CM000670.1:g.99170074del	GRCh37
NC_000008.9:g.99239250del	NCBI36
NG_052869.1:g.45554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.2650del MANE Select	ENSP00000385787.2:p.Leu884SerfsTer26
ENST00000349693.3:c.2650del	ENSP00000339529.3:p.Leu884SerfsTer26
ENST00000401707.6:c.2650del	ENSP00000385787.2:p.Leu884SerfsTer26
NM_001145860.1:c.2650del	NP_001139332.1:p.Leu884SerfsTer26
NM_001145861.1:c.2650del	NP_001139333.1:p.Leu884SerfsTer26
NM_015029.2:c.2650del	NP_055844.2:p.Leu884SerfsTer26
NM_001145860.2:c.2650del MANE Select	NP_001139332.1:p.Leu884SerfsTer26
NM_001145861.2:c.2650del	NP_001139333.1:p.Leu884SerfsTer26
NM_015029.3:c.2650del	NP_055844.2:p.Leu884SerfsTer26