Canonical Allele Identifier: CA1725948346

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518071_92518072delinsAC , CM000669.2:g.92518071_92518072delinsAC	GRCh38
NC_000007.13:g.92147385_92147386delinsAC , CM000669.1:g.92147385_92147386delinsAC	GRCh37
NC_000007.12:g.91985321_91985322delinsAC	NCBI36
NG_008341.1:g.15460_15461delinsGT
NG_008341.2:g.15460_15461delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.473-30_473-29delinsGT MANE Select	ENSP00000248633.4:n.473-30_473-29delinsGT...
ENST00000248633.8:c.473-30_473-29delinsGT	ENSP00000248633.4:n.473-30_473-29delinsGT...
ENST00000428214.5:c.473-30_473-29delinsGT	ENSP00000394413.1:n.473-30_473-29delinsGT...
ENST00000438045.5:c.273+4030_273+4031delinsGT	ENSP00000410438.1:n.273+4030_273+4031deli...
ENST00000484913.5:n.512-30_512-29delinsGT
NM_000466.2:c.473-30_473-29delinsGT	NP_000457.1:n.473-30_473-29delinsGT
NM_001282677.1:c.473-30_473-29delinsGT	NP_001269606.1:n.473-30_473-29delinsGT
NM_001282678.1:c.-152-30_-152-29delinsGT	NP_001269607.1:n.-152-30_-152-29delinsGT
XR_242246.3:n.569-30_569-29delinsGT
XR_242246.5:n.520-30_520-29delinsGT
NM_000466.3:c.473-30_473-29delinsGT MANE Select	NP_000457.1:n.473-30_473-29delinsGT
NM_001282677.2:c.473-30_473-29delinsGT	NP_001269606.1:n.473-30_473-29delinsGT
NM_001282678.2:c.-152-30_-152-29delinsGT	NP_001269607.1:n.-152-30_-152-29delinsGT