Canonical Allele Identifier: CA1725949256

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518985_92518989delinsTTTTC , CM000669.2:g.92518985_92518989delinsTTTTC	GRCh38
NC_000007.13:g.92148299_92148303delinsTTTTC , CM000669.1:g.92148299_92148303delinsTTTTC	GRCh37
NC_000007.12:g.91986235_91986239delinsTTTTC	NCBI36
NG_008341.1:g.14543_14547delinsGAAAA
NG_008341.2:g.14543_14547delinsGAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.357+6_357+10delinsGAAAA MANE Select	ENSP00000248633.4:n.357+6_357+10delinsGAAAA
ENST00000248633.8:c.357+6_357+10delinsGAAAA	ENSP00000248633.4:n.357+6_357+10delinsGAAAA
ENST00000428214.5:c.357+6_357+10delinsGAAAA	ENSP00000394413.1:n.357+6_357+10delinsGAAAA
ENST00000438045.5:c.273+3113_273+3117delinsGAAAA	ENSP00000410438.1:n.273+3113_273+3117delinsGAAAA
ENST00000484913.5:n.367_371delinsGAAAA
NM_000466.2:c.357+6_357+10delinsGAAAA	NP_000457.1:n.357+6_357+10delinsGAAAA
NM_001282677.1:c.357+6_357+10delinsGAAAA	NP_001269606.1:n.357+6_357+10delinsGAAAA
NM_001282678.1:c.-297_-293delinsGAAAA	NP_001269607.1:n.-297_-293delinsGAAAA
XR_242246.3:n.453+6_453+10delinsGAAAA
XR_242246.5:n.404+6_404+10delinsGAAAA
NM_000466.3:c.357+6_357+10delinsGAAAA MANE Select	NP_000457.1:n.357+6_357+10delinsGAAAA
NM_001282677.2:c.357+6_357+10delinsGAAAA	NP_001269606.1:n.357+6_357+10delinsGAAAA
NM_001282678.2:c.-297_-293delinsGAAAA	NP_001269607.1:n.-297_-293delinsGAAAA