Canonical Allele Identifier: CA2776947508

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518387_92518388insGTC , CM000669.2:g.92518387_92518388insGTC	GRCh38
NC_000007.13:g.92147701_92147702insGTC , CM000669.1:g.92147701_92147702insGTC	GRCh37
NC_000007.12:g.91985637_91985638insGTC	NCBI36
NG_008341.1:g.15144_15145insGAC
NG_008341.2:g.15144_15145insGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-133_358-132insGAC MANE Select	ENSP00000248633.4:n.358-133_358-132insGAC
ENST00000248633.8:c.358-133_358-132insGAC	ENSP00000248633.4:n.358-133_358-132insGAC
ENST00000428214.5:c.358-133_358-132insGAC	ENSP00000394413.1:n.358-133_358-132insGAC
ENST00000438045.5:c.273+3714_273+3715insGAC	ENSP00000410438.1:n.273+3714_273+3715insGAC
ENST00000484913.5:n.397-133_397-132insGAC
NM_000466.2:c.358-133_358-132insGAC	NP_000457.1:n.358-133_358-132insGAC
NM_001282677.1:c.358-133_358-132insGAC	NP_001269606.1:n.358-133_358-132insGAC
NM_001282678.1:c.-267-133_-267-132insGAC	NP_001269607.1:n.-267-133_-267-132insGAC
XR_242246.3:n.454-133_454-132insGAC
XR_242246.5:n.405-133_405-132insGAC
NM_000466.3:c.358-133_358-132insGAC MANE Select	NP_000457.1:n.358-133_358-132insGAC
NM_001282677.2:c.358-133_358-132insGAC	NP_001269606.1:n.358-133_358-132insGAC
NM_001282678.2:c.-267-133_-267-132insGAC	NP_001269607.1:n.-267-133_-267-132insGAC