Canonical Allele Identifier: CA995299804

Gene: PEPD

Linked Data

• dbSNP Id: rs1968492381
• gnomAD v3: 19-33401640-CGTTCCCT-C
• gnomAD v4: 19-33401640-CGTTCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401642_33401648del , CM000681.2:g.33401642_33401648del	GRCh38
NC_000019.9:g.33892548_33892554del , CM000681.1:g.33892548_33892554del	GRCh37
NC_000019.8:g.38584388_38584394del	NCBI36
NG_013358.1:g.125247_125253del
NG_013358.2:g.125247_125253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.967+74_967+80del	ENSP00000468516.4:n.967+74_967+80del
ENST00000651901.2:c.967+74_967+80del	ENSP00000498922.2:n.967+74_967+80del
ENST00000698359.1:c.922+74_922+80del	ENSP00000513682.1:n.922+74_922+80del
ENST00000698360.1:c.1018+74_1018+80del	ENSP00000513683.1:n.1018+74_1018+80del
ENST00000698361.1:c.967+74_967+80del	ENSP00000513684.1:n.967+74_967+80del
ENST00000698362.1:c.967+74_967+80del	ENSP00000513685.1:n.967+74_967+80del
ENST00000698363.1:n.1030+74_1030+80del
ENST00000698364.1:n.1030+74_1030+80del
ENST00000698365.1:n.1104_1110del
ENST00000698426.1:c.646+74_646+80del	ENSP00000513713.1:n.646+74_646+80del
ENST00000698427.1:c.1009+74_1009+80del	ENSP00000513714.1:n.1009+74_1009+80del
ENST00000698428.1:c.646+74_646+80del	ENSP00000513715.1:n.646+74_646+80del
ENST00000698429.1:n.850+74_850+80del
ENST00000698430.1:c.1217+74_1217+80del
ENST00000698431.1:c.704+74_704+80del	ENSP00000513717.1:n.704+74_704+80del
ENST00000698432.1:c.776+74_776+80del
ENST00000698433.1:n.429+74_429+80del
ENST00000698434.1:n.454+74_454+80del
ENST00000244137.12:c.967+74_967+80del MANE Select	ENSP00000244137.5:n.967+74_967+80del
ENST00000588328.6:c.956+74_956+80del
ENST00000590731.6:n.642+74_642+80del
ENST00000651901.1:c.963+74_963+80del
ENST00000244137.11:c.967+74_967+80del	ENSP00000244137.5:n.967+74_967+80del
ENST00000397032.8:c.844+74_844+80del	ENSP00000380226.3:n.844+74_844+80del
ENST00000436370.7:c.775+74_775+80del	ENSP00000391890.2:n.775+74_775+80del
ENST00000588328.5:c.458+74_458+80del
NM_000285.3:c.967+74_967+80del	NP_000276.2:n.967+74_967+80del
NM_001166056.1:c.844+74_844+80del	NP_001159528.1:n.844+74_844+80del
NM_001166057.1:c.775+74_775+80del	NP_001159529.1:n.775+74_775+80del
NM_000285.4:c.967+74_967+80del MANE Select	NP_000276.2:n.967+74_967+80del
NM_001166056.2:c.844+74_844+80del	NP_001159528.1:n.844+74_844+80del
NM_001166057.2:c.775+74_775+80del	NP_001159529.1:n.775+74_775+80del