Canonical Allele Identifier: CA10605569

Gene: PEX1

Linked Data

• ClinVar Variation Id: 286796
• ClinVar RCV Id: RCV000317622 ; RCV000725900 ; RCV001855178
• dbSNP Id: rs886043479
• gnomAD v2: 7-92146697-CT-C
• gnomAD v3: 7-92517383-CT-C
• gnomAD v4: 7-92517383-CT-C
• MyVariant Identifiers: chr7:g.92146698del (hg19) ; chr7:g.92517384del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517385del , CM000669.2:g.92517385del	GRCh38
NC_000007.13:g.92146699del , CM000669.1:g.92146699del	GRCh37
NC_000007.12:g.91984635del	NCBI36
NG_008341.1:g.16148del
NG_008341.2:g.16148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1131del MANE Select	ENSP00000248633.4:p.Asp378MetfsTer9
ENST00000248633.8:c.1131del	ENSP00000248633.4:p.Asp378MetfsTer9
ENST00000422866.1:c.32del
ENST00000428214.5:c.1131del	ENSP00000394413.1:p.Asp378MetfsTer9
ENST00000438045.5:c.274-3417del	ENSP00000410438.1:n.274-3417del
ENST00000484913.5:n.1170del
NM_000466.2:c.1131del	NP_000457.1:p.Asp378MetfsTer9
NM_001282677.1:c.1131del	NP_001269606.1:p.Asp378MetfsTer9
NM_001282678.1:c.507del	NP_001269607.1:p.Asp170MetfsTer9
XR_242246.3:n.1227del
XM_017012319.2:c.-536del	XP_016867808.1:n.-536del
XR_001744808.2:n.241del
XR_242246.5:n.1178del
NM_000466.3:c.1131del MANE Select	NP_000457.1:p.Asp378MetfsTer9
NM_001282677.2:c.1131del	NP_001269606.1:p.Asp378MetfsTer9
NM_001282678.2:c.507del	NP_001269607.1:p.Asp170MetfsTer9