Canonical Allele Identifier: CA2735804665

Gene: PEPD

Linked Data

• dbSNP Id: rs2145346699

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401738_33401778dup , CM000681.2:g.33401738_33401778dup	GRCh38
NC_000019.9:g.33892644_33892684dup , CM000681.1:g.33892644_33892684dup	GRCh37
NC_000019.8:g.38584484_38584524dup	NCBI36
NG_013358.1:g.125117_125157dup
NG_013358.2:g.125117_125157dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.911_951dup	ENSP00000468516.4:p.Gly318ProfsTer17
ENST00000651901.2:c.911_951dup	ENSP00000498922.2:p.Gly318ProfsTer17
ENST00000698359.1:c.866_906dup	ENSP00000513682.1:p.Gly303ProfsTer17
ENST00000698360.1:c.962_1002dup	ENSP00000513683.1:p.Gly335ProfsTer17
ENST00000698361.1:c.911_951dup	ENSP00000513684.1:p.Gly318ProfsTer17
ENST00000698362.1:c.911_951dup	ENSP00000513685.1:p.Gly318ProfsTer17
ENST00000698363.1:n.974_1014dup
ENST00000698364.1:n.974_1014dup
ENST00000698365.1:n.974_1014dup
ENST00000698426.1:c.590_630dup	ENSP00000513713.1:p.Gly211ProfsTer17
ENST00000698427.1:c.953_993dup	ENSP00000513714.1:p.Gly332ProfsTer17
ENST00000698428.1:c.590_630dup	ENSP00000513715.1:p.Gly211ProfsTer17
ENST00000698429.1:n.794_834dup
ENST00000698430.1:c.1161_1201dup
ENST00000698431.1:c.648_688dup	ENSP00000513717.1:n.648_688dup
ENST00000698432.1:c.720_760dup
ENST00000698433.1:n.373_413dup
ENST00000698434.1:n.398_438dup
ENST00000244137.12:c.911_951dup MANE Select	ENSP00000244137.5:p.Gly318ProfsTer17
ENST00000588328.6:c.900_940dup
ENST00000590731.6:n.586_626dup
ENST00000651901.1:c.907_947dup
ENST00000244137.11:c.911_951dup	ENSP00000244137.5:p.Gly318ProfsTer17
ENST00000397032.8:c.788_828dup	ENSP00000380226.3:p.Gly277ProfsTer17
ENST00000436370.7:c.719_759dup	ENSP00000391890.2:p.Gly254ProfsTer17
ENST00000588328.5:c.402_442dup
NM_000285.3:c.911_951dup	NP_000276.2:p.Gly318ProfsTer17
NM_001166056.1:c.788_828dup	NP_001159528.1:p.Gly277ProfsTer17
NM_001166057.1:c.719_759dup	NP_001159529.1:p.Gly254ProfsTer17
NM_000285.4:c.911_951dup MANE Select	NP_000276.2:p.Gly318ProfsTer17
NM_001166056.2:c.788_828dup	NP_001159528.1:p.Gly277ProfsTer17
NM_001166057.2:c.719_759dup	NP_001159529.1:p.Gly254ProfsTer17