Canonical Allele Identifier: CA2776945670

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496883_92496884insACTC , CM000669.2:g.92496883_92496884insACTC	GRCh38
NC_000007.13:g.92126197_92126198insACTC , CM000669.1:g.92126197_92126198insACTC	GRCh37
NC_000007.12:g.91964133_91964134insACTC	NCBI36
NG_008341.1:g.36648_36649insGAGT
NG_008341.2:g.36648_36649insGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-107_2719-106insGAGT MANE Select	ENSP00000248633.4:n.2719-107_2719-106insGAGT
ENST00000248633.8:c.2719-107_2719-106insGAGT	ENSP00000248633.4:n.2719-107_2719-106insGAGT
ENST00000428214.5:c.2548-107_2548-106insGAGT	ENSP00000394413.1:n.2548-107_2548-106insGAGT
ENST00000438045.5:c.1753-107_1753-106insGAGT	ENSP00000410438.1:n.1753-107_1753-106insGAGT
ENST00000484913.5:n.2758-107_2758-106insGAGT
ENST00000496420.5:n.2611-107_2611-106insGAGT
NM_000466.2:c.2719-107_2719-106insGAGT	NP_000457.1:n.2719-107_2719-106insGAGT
NM_001282677.1:c.2548-107_2548-106insGAGT	NP_001269606.1:n.2548-107_2548-106insGAGT
NM_001282678.1:c.2095-107_2095-106insGAGT	NP_001269607.1:n.2095-107_2095-106insGAGT
XM_005250433.3:c.970-107_970-106insGAGT	XP_005250490.1:n.970-107_970-106insGAGT
XR_242246.3:n.2815-107_2815-106insGAGT
XM_017012319.2:c.970-107_970-106insGAGT	XP_016867808.1:n.970-107_970-106insGAGT
XR_001744808.2:n.1746-107_1746-106insGAGT
XR_242246.5:n.2766-107_2766-106insGAGT
NM_000466.3:c.2719-107_2719-106insGAGT MANE Select	NP_000457.1:n.2719-107_2719-106insGAGT
NM_001282677.2:c.2548-107_2548-106insGAGT	NP_001269606.1:n.2548-107_2548-106insGAGT
NM_001282678.2:c.2095-107_2095-106insGAGT	NP_001269607.1:n.2095-107_2095-106insGAGT