Canonical Allele Identifier: CA2688039211

Gene: POP1

Linked Data

• gnomAD v4: 8-98157933-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98157941_98157943del , CM000670.2:g.98157941_98157943del	GRCh38
NC_000008.10:g.99170169_99170171del , CM000670.1:g.99170169_99170171del	GRCh37
NC_000008.9:g.99239345_99239347del	NCBI36
NG_052869.1:g.45649_45651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.2745_2747del MANE Select	ENSP00000385787.2:p.Lys916del
ENST00000349693.3:c.2745_2747del	ENSP00000339529.3:p.Lys916del
ENST00000401707.6:c.2745_2747del	ENSP00000385787.2:p.Lys916del
NM_001145860.1:c.2745_2747del	NP_001139332.1:p.Lys916del
NM_001145861.1:c.2745_2747del	NP_001139333.1:p.Lys916del
NM_015029.2:c.2745_2747del	NP_055844.2:p.Lys916del
NM_001145860.2:c.2745_2747del MANE Select	NP_001139332.1:p.Lys916del
NM_001145861.2:c.2745_2747del	NP_001139333.1:p.Lys916del
NM_015029.3:c.2745_2747del	NP_055844.2:p.Lys916del