Canonical Allele Identifier: CA632705437

Gene: PEPD

Linked Data

• dbSNP Id: rs1246800144
• gnomAD v2: 19-34012491-GCAGCTCGCCGACCGGCGCTGGGACTCC-G
• gnomAD v3: 19-33521585-GCAGCTCGCCGACCGGCGCTGGGACTCC-G
• gnomAD v4: 19-33521585-GCAGCTCGCCGACCGGCGCTGGGACTCC-G
• MyVariant Identifiers: chr19:g.34012492_34012518del (hg19) ; chr19:g.33521586_33521612del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521586_33521612del , CM000681.2:g.33521586_33521612del	GRCh38
NC_000019.9:g.34012492_34012518del , CM000681.1:g.34012492_34012518del	GRCh37
NC_000019.8:g.38704332_38704358del	NCBI36
NG_013358.1:g.5282_5308del
NG_013358.2:g.5282_5308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.17+132_17+158del	ENSP00000468516.4:n.17+132_17+158del
ENST00000651646.2:c.17+132_17+158del	ENSP00000498950.2:n.17+132_17+158del
ENST00000651901.2:c.17+132_17+158del	ENSP00000498922.2:n.17+132_17+158del
ENST00000698359.1:c.17+132_17+158del	ENSP00000513682.1:n.17+132_17+158del
ENST00000698360.1:c.17+132_17+158del	ENSP00000513683.1:n.17+132_17+158del
ENST00000698361.1:c.17+132_17+158del	ENSP00000513684.1:n.17+132_17+158del
ENST00000698362.1:c.17+132_17+158del	ENSP00000513685.1:n.17+132_17+158del
ENST00000698363.1:n.80+132_80+158del
ENST00000698364.1:n.80+132_80+158del
ENST00000698365.1:n.80+132_80+158del
ENST00000698426.1:c.-499+132_-499+158del	ENSP00000513713.1:n.-499+132_-499+158del
ENST00000698427.1:c.59+25_59+51del	ENSP00000513714.1:n.59+25_59+51del
ENST00000698428.1:c.-305+60_-305+86del	ENSP00000513715.1:n.-305+60_-305+86del
ENST00000698435.1:c.17+132_17+158del	ENSP00000513719.1:n.17+132_17+158del
ENST00000698436.1:c.17+132_17+158del	ENSP00000513720.1:n.17+132_17+158del
ENST00000244137.12:c.17+132_17+158del MANE Select	ENSP00000244137.5:n.17+132_17+158del
ENST00000588328.6:c.6+132_6+158del
ENST00000651646.1:c.15+132_15+158del
ENST00000651901.1:c.13+132_13+158del
ENST00000244137.11:c.17+132_17+158del	ENSP00000244137.5:n.17+132_17+158del
ENST00000397032.8:c.17+132_17+158del	ENSP00000380226.3:n.17+132_17+158del
ENST00000436370.7:c.17+132_17+158del	ENSP00000391890.2:n.17+132_17+158del
NM_000285.3:c.17+132_17+158del	NP_000276.2:n.17+132_17+158del
NM_001166056.1:c.17+132_17+158del	NP_001159528.1:n.17+132_17+158del
NM_001166057.1:c.17+132_17+158del	NP_001159529.1:n.17+132_17+158del
NM_000285.4:c.17+132_17+158del MANE Select	NP_000276.2:n.17+132_17+158del
NM_001166056.2:c.17+132_17+158del	NP_001159528.1:n.17+132_17+158del
NM_001166057.2:c.17+132_17+158del	NP_001159529.1:n.17+132_17+158del