Canonical Allele Identifier: CA1725948517

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518198_92518201delinsGAAA , CM000669.2:g.92518198_92518201delinsGAAA	GRCh38
NC_000007.13:g.92147512_92147515delinsGAAA , CM000669.1:g.92147512_92147515delinsGAAA	GRCh37
NC_000007.12:g.91985448_91985451delinsGAAA	NCBI36
NG_008341.1:g.15331_15334delinsTTTC
NG_008341.2:g.15331_15334delinsTTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.412_415delinsTTTC MANE Select	ENSP00000248633.4:p.Phe138=
ENST00000248633.8:c.412_415delinsTTTC	ENSP00000248633.4:p.Phe138=
ENST00000428214.5:c.412_415delinsTTTC	ENSP00000394413.1:p.Phe138=
ENST00000438045.5:c.273+3901_273+3904delinsTTTC	ENSP00000410438.1:n.273+3901_273+3904deli...
ENST00000484913.5:n.451_454delinsTTTC
NM_000466.2:c.412_415delinsTTTC	NP_000457.1:p.Phe138=
NM_001282677.1:c.412_415delinsTTTC	NP_001269606.1:p.Phe138=
NM_001282678.1:c.-213_-210delinsTTTC	NP_001269607.1:n.-213_-210delinsTTTC
XR_242246.3:n.508_511delinsTTTC
XR_242246.5:n.459_462delinsTTTC
NM_000466.3:c.412_415delinsTTTC MANE Select	NP_000457.1:p.Phe138=
NM_001282677.2:c.412_415delinsTTTC	NP_001269606.1:p.Phe138=
NM_001282678.2:c.-213_-210delinsTTTC	NP_001269607.1:n.-213_-210delinsTTTC