Canonical Allele Identifier: CA274313

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 189043
• ClinVar RCV Id: RCV000169435 ; RCV000414630 ; RCV000588350 ; RCV001004318 ; RCV001201389 ; RCV002470783 ; RCV003474914
• dbSNP Id: rs61750426
• ExAC: 7:92123810 CT / C
• gnomAD v2: 7-92123810-CT-C
• gnomAD v3: 7-92494496-CT-C
• gnomAD v4: 7-92494496-CT-C
• MyVariant Identifiers: chr7:g.92123811del (hg19) ; chr7:g.92494497del (hg38)
• PubMed: PMID:12032265 ; PMID:12402331 ; PMID:15542397 ; PMID:16141001 ; PMID:19105186 ; PMID:21031596 ; PMID:21846392

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494498del , CM000669.2:g.92494498del	GRCh38
NC_000007.13:g.92123812del , CM000669.1:g.92123812del	GRCh37
NC_000007.12:g.91961748del	NCBI36
NG_008341.1:g.39035del
NG_008341.2:g.39035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2916del (PEX1) MANE Select	ENSP00000248633.4:p.Gly973AlafsTer16
ENST00000248633.8:c.2916del (PEX1)	ENSP00000248633.4:p.Gly973AlafsTer16
ENST00000428214.5:c.2745del (PEX1)	ENSP00000394413.1:p.Gly916AlafsTer16
ENST00000438045.5:c.1950del (PEX1)	ENSP00000410438.1:p.Gly651AlafsTer16
ENST00000484913.5:n.2955del (PEX1)
ENST00000496420.5:n.2808del (PEX1)
NM_000466.2:c.2916del (PEX1)	NP_000457.1:p.Gly973AlafsTer16
NM_001282677.1:c.2745del (PEX1)	NP_001269606.1:p.Gly916AlafsTer16
NM_001282678.1:c.2292del (PEX1)	NP_001269607.1:p.Gly765AlafsTer16
XM_005250433.3:c.1167del (PEX1)	XP_005250490.1:p.Gly390AlafsTer16
XR_242246.3:n.3012del (PEX1)
XM_017012319.2:c.1167del (PEX1)	XP_016867808.1:p.Gly390AlafsTer16
XR_001744808.2:n.1943del (PEX1)
XR_001744843.2:n.5467del (GATAD1)
XR_242246.5:n.2963del (PEX1)
XR_927494.3:n.4318del (GATAD1)
XR_927503.3:n.4249del (GATAD1)
NM_000466.3:c.2916del (PEX1) MANE Select	NP_000457.1:p.Gly973AlafsTer16
NM_001282677.2:c.2745del (PEX1)	NP_001269606.1:p.Gly916AlafsTer16
NM_001282678.2:c.2292del (PEX1)	NP_001269607.1:p.Gly765AlafsTer16