Canonical Allele Identifier: CA2508540376

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401589_33401590insGGCGATGTTGT , CM000681.2:g.33401589_33401590insGGCGATGTTGT	GRCh38
NC_000019.9:g.33892495_33892496insGGCGATGTTGT , CM000681.1:g.33892495_33892496insGGCGATGTTGT	GRCh37
NC_000019.8:g.38584335_38584336insGGCGATGTTGT	NCBI36
NG_013358.1:g.125304_125305insACAACATCGCC
NG_013358.2:g.125304_125305insACAACATCGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.967+131_967+132insACAACATCGCC	ENSP00000468516.4:n.967+131_967+132insACAACATCGCC
ENST00000651901.2:c.967+131_967+132insACAACATCGCC	ENSP00000498922.2:n.967+131_967+132insACAACATCGCC
ENST00000698359.1:c.922+131_922+132insACAACATCGCC	ENSP00000513682.1:n.922+131_922+132insACAACATCGCC
ENST00000698360.1:c.1018+131_1018+132insACAACATCGCC	ENSP00000513683.1:n.1018+131_1018+132insACAACATCGCC
ENST00000698361.1:c.967+131_967+132insACAACATCGCC	ENSP00000513684.1:n.967+131_967+132insACAACATCGCC
ENST00000698362.1:c.967+131_967+132insACAACATCGCC	ENSP00000513685.1:n.967+131_967+132insACAACATCGCC
ENST00000698363.1:n.1030+131_1030+132insACAACATCGCC
ENST00000698364.1:n.1030+131_1030+132insACAACATCGCC
ENST00000698365.1:n.1161_1162insACAACATCGCC
ENST00000698426.1:c.646+131_646+132insACAACATCGCC	ENSP00000513713.1:n.646+131_646+132insACAACATCGCC
ENST00000698427.1:c.1009+131_1009+132insACAACATCGCC	ENSP00000513714.1:n.1009+131_1009+132insACAACATCGCC
ENST00000698428.1:c.646+131_646+132insACAACATCGCC	ENSP00000513715.1:n.646+131_646+132insACAACATCGCC
ENST00000698429.1:n.850+131_850+132insACAACATCGCC
ENST00000698430.1:c.1217+131_1217+132insACAACATCGCC
ENST00000698431.1:c.704+131_704+132insACAACATCGCC	ENSP00000513717.1:n.704+131_704+132insACAACATCGCC
ENST00000698432.1:c.776+131_776+132insACAACATCGCC
ENST00000698433.1:n.429+131_429+132insACAACATCGCC
ENST00000698434.1:n.454+131_454+132insACAACATCGCC
ENST00000244137.12:c.967+131_967+132insACAACATCGCC MANE Select	ENSP00000244137.5:n.967+131_967+132insACAACATCGCC
ENST00000588328.6:c.956+131_956+132insACAACATCGCC
ENST00000590731.6:n.642+131_642+132insACAACATCGCC
ENST00000651901.1:c.963+131_963+132insACAACATCGCC
ENST00000244137.11:c.967+131_967+132insACAACATCGCC	ENSP00000244137.5:n.967+131_967+132insACAACATCGCC
ENST00000397032.8:c.844+131_844+132insACAACATCGCC	ENSP00000380226.3:n.844+131_844+132insACAACATCGCC
ENST00000436370.7:c.775+131_775+132insACAACATCGCC	ENSP00000391890.2:n.775+131_775+132insACAACATCGCC
ENST00000588328.5:c.458+131_458+132insACAACATCGCC
NM_000285.3:c.967+131_967+132insACAACATCGCC	NP_000276.2:n.967+131_967+132insACAACATCGCC
NM_001166056.1:c.844+131_844+132insACAACATCGCC	NP_001159528.1:n.844+131_844+132insACAACATCGCC
NM_001166057.1:c.775+131_775+132insACAACATCGCC	NP_001159529.1:n.775+131_775+132insACAACATCGCC
NM_000285.4:c.967+131_967+132insACAACATCGCC MANE Select	NP_000276.2:n.967+131_967+132insACAACATCGCC
NM_001166056.2:c.844+131_844+132insACAACATCGCC	NP_001159528.1:n.844+131_844+132insACAACATCGCC
NM_001166057.2:c.775+131_775+132insACAACATCGCC	NP_001159529.1:n.775+131_775+132insACAACATCGCC