Canonical Allele Identifier: CA2776947502

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518361_92518362insAGAC , CM000669.2:g.92518361_92518362insAGAC	GRCh38
NC_000007.13:g.92147675_92147676insAGAC , CM000669.1:g.92147675_92147676insAGAC	GRCh37
NC_000007.12:g.91985611_91985612insAGAC	NCBI36
NG_008341.1:g.15170_15171insGTCT
NG_008341.2:g.15170_15171insGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-107_358-106insGTCT MANE Select	ENSP00000248633.4:n.358-107_358-106insGTCT
ENST00000248633.8:c.358-107_358-106insGTCT	ENSP00000248633.4:n.358-107_358-106insGTCT
ENST00000428214.5:c.358-107_358-106insGTCT	ENSP00000394413.1:n.358-107_358-106insGTCT
ENST00000438045.5:c.273+3740_273+3741insGTCT	ENSP00000410438.1:n.273+3740_273+3741insGTCT
ENST00000484913.5:n.397-107_397-106insGTCT
NM_000466.2:c.358-107_358-106insGTCT	NP_000457.1:n.358-107_358-106insGTCT
NM_001282677.1:c.358-107_358-106insGTCT	NP_001269606.1:n.358-107_358-106insGTCT
NM_001282678.1:c.-267-107_-267-106insGTCT	NP_001269607.1:n.-267-107_-267-106insGTCT
XR_242246.3:n.454-107_454-106insGTCT
XR_242246.5:n.405-107_405-106insGTCT
NM_000466.3:c.358-107_358-106insGTCT MANE Select	NP_000457.1:n.358-107_358-106insGTCT
NM_001282677.2:c.358-107_358-106insGTCT	NP_001269606.1:n.358-107_358-106insGTCT
NM_001282678.2:c.-267-107_-267-106insGTCT	NP_001269607.1:n.-267-107_-267-106insGTCT