Canonical Allele Identifier: CA2688039208

Gene: POP1

Linked Data

• gnomAD v4: 8-98157653-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98157656del , CM000670.2:g.98157656del	GRCh38
NC_000008.10:g.99169884del , CM000670.1:g.99169884del	GRCh37
NC_000008.9:g.99239060del	NCBI36
NG_052869.1:g.45364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.2460del MANE Select	ENSP00000385787.2:p.Ser822ValfsTer19
ENST00000349693.3:c.2460del	ENSP00000339529.3:p.Ser822ValfsTer19
ENST00000401707.6:c.2460del	ENSP00000385787.2:p.Ser822ValfsTer19
ENST00000517435.1:n.495del
NM_001145860.1:c.2460del	NP_001139332.1:p.Ser822ValfsTer19
NM_001145861.1:c.2460del	NP_001139333.1:p.Ser822ValfsTer19
NM_015029.2:c.2460del	NP_055844.2:p.Ser822ValfsTer19
NM_001145860.2:c.2460del MANE Select	NP_001139332.1:p.Ser822ValfsTer19
NM_001145861.2:c.2460del	NP_001139333.1:p.Ser822ValfsTer19
NM_015029.3:c.2460del	NP_055844.2:p.Ser822ValfsTer19