Canonical Allele Identifier: CA2499219047

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1065420
• ClinVar RCV Id: RCV001375933 ; RCV003473893
• dbSNP Id: rs2116094537

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494538_92494540delinsA , CM000669.2:g.92494538_92494540delinsA	GRCh38
NC_000007.13:g.92123852_92123854delinsA , CM000669.1:g.92123852_92123854delinsA	GRCh37
NC_000007.12:g.91961788_91961790delinsA	NCBI36
NG_008341.1:g.38992_38994delinsT
NG_008341.2:g.38992_38994delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2873_2875delinsT (PEX1) MANE Select	ENSP00000248633.4:p.Asp958ValfsTer4
ENST00000248633.8:c.2873_2875delinsT (PEX1)	ENSP00000248633.4:p.Asp958ValfsTer4
ENST00000428214.5:c.2702_2704delinsT (PEX1)	ENSP00000394413.1:p.Asp901ValfsTer4
ENST00000438045.5:c.1907_1909delinsT (PEX1)	ENSP00000410438.1:p.Asp636ValfsTer4
ENST00000484913.5:n.2912_2914delinsT (PEX1)
ENST00000496420.5:n.2765_2767delinsT (PEX1)
NM_000466.2:c.2873_2875delinsT (PEX1)	NP_000457.1:p.Asp958ValfsTer4
NM_001282677.1:c.2702_2704delinsT (PEX1)	NP_001269606.1:p.Asp901ValfsTer4
NM_001282678.1:c.2249_2251delinsT (PEX1)	NP_001269607.1:p.Asp750ValfsTer4
XM_005250433.3:c.1124_1126delinsT (PEX1)	XP_005250490.1:p.Asp375ValfsTer4
XR_242246.3:n.2969_2971delinsT (PEX1)
XM_017012319.2:c.1124_1126delinsT (PEX1)	XP_016867808.1:p.Asp375ValfsTer4
XR_001744808.2:n.1900_1902delinsT (PEX1)
XR_001744843.2:n.5507_5509delinsA (GATAD1)
XR_242246.5:n.2920_2922delinsT (PEX1)
XR_927494.3:n.4358_4360delinsA (GATAD1)
XR_927503.3:n.4289_4291delinsA (GATAD1)
NM_000466.3:c.2873_2875delinsT (PEX1) MANE Select	NP_000457.1:p.Asp958ValfsTer4
NM_001282677.2:c.2702_2704delinsT (PEX1)	NP_001269606.1:p.Asp901ValfsTer4
NM_001282678.2:c.2249_2251delinsT (PEX1)	NP_001269607.1:p.Asp750ValfsTer4