Canonical Allele Identifier: CA2688039189

Gene: POP1

Linked Data

• gnomAD v4: 8-98157527-CAAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98157528_98157531del , CM000670.2:g.98157528_98157531del	GRCh38
NC_000008.10:g.99169756_99169759del , CM000670.1:g.99169756_99169759del	GRCh37
NC_000008.9:g.99238932_99238935del	NCBI36
NG_052869.1:g.45236_45239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.2421-89_2421-86del MANE Select	ENSP00000385787.2:n.2421-89_2421-86del
ENST00000349693.3:c.2421-89_2421-86del	ENSP00000339529.3:n.2421-89_2421-86del
ENST00000401707.6:c.2421-89_2421-86del	ENSP00000385787.2:n.2421-89_2421-86del
ENST00000517435.1:n.456-89_456-86del
NM_001145860.1:c.2421-89_2421-86del	NP_001139332.1:n.2421-89_2421-86del
NM_001145861.1:c.2421-89_2421-86del	NP_001139333.1:n.2421-89_2421-86del
NM_015029.2:c.2421-89_2421-86del	NP_055844.2:n.2421-89_2421-86del
NM_001145860.2:c.2421-89_2421-86del MANE Select	NP_001139332.1:n.2421-89_2421-86del
NM_001145861.2:c.2421-89_2421-86del	NP_001139333.1:n.2421-89_2421-86del
NM_015029.3:c.2421-89_2421-86del	NP_055844.2:n.2421-89_2421-86del