Canonical Allele Identifier: CA1725948526

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518204_92518206delinsCTA , CM000669.2:g.92518204_92518206delinsCTA	GRCh38
NC_000007.13:g.92147518_92147520delinsCTA , CM000669.1:g.92147518_92147520delinsCTA	GRCh37
NC_000007.12:g.91985454_91985456delinsCTA	NCBI36
NG_008341.1:g.15326_15328delinsTAG
NG_008341.2:g.15326_15328delinsTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.407_409delinsTAG MANE Select	ENSP00000248633.4:p.Ile136=
ENST00000248633.8:c.407_409delinsTAG	ENSP00000248633.4:p.Ile136=
ENST00000428214.5:c.407_409delinsTAG	ENSP00000394413.1:p.Ile136=
ENST00000438045.5:c.273+3896_273+3898delinsTAG	ENSP00000410438.1:n.273+3896_273+3898deli...
ENST00000484913.5:n.446_448delinsTAG
NM_000466.2:c.407_409delinsTAG	NP_000457.1:p.Ile136=
NM_001282677.1:c.407_409delinsTAG	NP_001269606.1:p.Ile136=
NM_001282678.1:c.-218_-216delinsTAG	NP_001269607.1:n.-218_-216delinsTAG
XR_242246.3:n.503_505delinsTAG
XR_242246.5:n.454_456delinsTAG
NM_000466.3:c.407_409delinsTAG MANE Select	NP_000457.1:p.Ile136=
NM_001282677.2:c.407_409delinsTAG	NP_001269606.1:p.Ile136=
NM_001282678.2:c.-218_-216delinsTAG	NP_001269607.1:n.-218_-216delinsTAG