Canonical Allele Identifier: CA1725949113

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518837_92518838delinsTG , CM000669.2:g.92518837_92518838delinsTG	GRCh38
NC_000007.13:g.92148151_92148152delinsTG , CM000669.1:g.92148151_92148152delinsTG	GRCh37
NC_000007.12:g.91986087_91986088delinsTG	NCBI36
NG_008341.1:g.14694_14695delinsCA
NG_008341.2:g.14694_14695delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.357+157_357+158delinsCA MANE Select	ENSP00000248633.4:n.357+157_357+158delins...
ENST00000248633.8:c.357+157_357+158delinsCA	ENSP00000248633.4:n.357+157_357+158delins...
ENST00000428214.5:c.357+157_357+158delinsCA	ENSP00000394413.1:n.357+157_357+158delins...
ENST00000438045.5:c.273+3264_273+3265delinsCA	ENSP00000410438.1:n.273+3264_273+3265deli...
ENST00000484913.5:n.396+122_396+123delinsCA
NM_000466.2:c.357+157_357+158delinsCA	NP_000457.1:n.357+157_357+158delinsCA
NM_001282677.1:c.357+157_357+158delinsCA	NP_001269606.1:n.357+157_357+158delinsCA
NM_001282678.1:c.-268+122_-268+123delinsCA	NP_001269607.1:n.-268+122_-268+123delinsC...
XR_242246.3:n.453+157_453+158delinsCA
XR_242246.5:n.404+157_404+158delinsCA
NM_000466.3:c.357+157_357+158delinsCA MANE Select	NP_000457.1:n.357+157_357+158delinsCA
NM_001282677.2:c.357+157_357+158delinsCA	NP_001269606.1:n.357+157_357+158delinsCA
NM_001282678.2:c.-268+122_-268+123delinsCA	NP_001269607.1:n.-268+122_-268+123delinsC...