Canonical Allele Identifier: CA274114

Gene: PEX1

Linked Data

• ClinVar Variation Id: 188910
• ClinVar RCV Id: RCV000169270 ; RCV001004520 ; RCV001194278 ; RCV001201363 ; RCV001781524 ; RCV003162722 ; RCV003474903
• dbSNP Id: rs749067142
• ExAC: 7:92147045 CTT / C
• gnomAD v2: 7-92147045-CTT-C
• gnomAD v3: 7-92517731-CTT-C
• gnomAD v4: 7-92517731-CTT-C
• MyVariant Identifiers: chr7:g.92147046_92147047del (hg19) ; chr7:g.92517732_92517733del (hg38)
• PubMed: PMID:19105186 ; PMID:23247051

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517732_92517733del , CM000669.2:g.92517732_92517733del	GRCh38
NC_000007.13:g.92147046_92147047del , CM000669.1:g.92147046_92147047del	GRCh37
NC_000007.12:g.91984982_91984983del	NCBI36
NG_008341.1:g.15799_15800del
NG_008341.2:g.15799_15800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.782_783del MANE Select	ENSP00000248633.4:p.Gln261ArgfsTer8
ENST00000248633.8:c.782_783del	ENSP00000248633.4:p.Gln261ArgfsTer8
ENST00000428214.5:c.782_783del	ENSP00000394413.1:p.Gln261ArgfsTer8
ENST00000438045.5:c.274-3766_274-3765del	ENSP00000410438.1:n.274-3766_274-3765del
ENST00000484913.5:n.821_822del
NM_000466.2:c.782_783del	NP_000457.1:p.Gln261ArgfsTer8
NM_001282677.1:c.782_783del	NP_001269606.1:p.Gln261ArgfsTer8
NM_001282678.1:c.158_159del	NP_001269607.1:p.Gln53ArgfsTer8
XR_242246.3:n.878_879del
XR_242246.5:n.829_830del
NM_000466.3:c.782_783del MANE Select	NP_000457.1:p.Gln261ArgfsTer8
NM_001282677.2:c.782_783del	NP_001269606.1:p.Gln261ArgfsTer8
NM_001282678.2:c.158_159del	NP_001269607.1:p.Gln53ArgfsTer8