Canonical Allele Identifier: CA1725949212

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518947_92518951delinsGAAGT , CM000669.2:g.92518947_92518951delinsGAAGT	GRCh38
NC_000007.13:g.92148261_92148265delinsGAAGT , CM000669.1:g.92148261_92148265delinsGAAGT	GRCh37
NC_000007.12:g.91986197_91986201delinsGAAGT	NCBI36
NG_008341.1:g.14581_14585delinsACTTC
NG_008341.2:g.14581_14585delinsACTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.357+44_357+48delinsACTTC MANE Select	ENSP00000248633.4:n.357+44_357+48delinsAC...
ENST00000248633.8:c.357+44_357+48delinsACTTC	ENSP00000248633.4:n.357+44_357+48delinsAC...
ENST00000428214.5:c.357+44_357+48delinsACTTC	ENSP00000394413.1:n.357+44_357+48delinsAC...
ENST00000438045.5:c.273+3151_273+3155delinsACTTC	ENSP00000410438.1:n.273+3151_273+3155deli...
ENST00000484913.5:n.396+9_396+13delinsACTTC
NM_000466.2:c.357+44_357+48delinsACTTC	NP_000457.1:n.357+44_357+48delinsACTTC
NM_001282677.1:c.357+44_357+48delinsACTTC	NP_001269606.1:n.357+44_357+48delinsACTTC...
NM_001282678.1:c.-268+9_-268+13delinsACTTC	NP_001269607.1:n.-268+9_-268+13delinsACTT...
XR_242246.3:n.453+44_453+48delinsACTTC
XR_242246.5:n.404+44_404+48delinsACTTC
NM_000466.3:c.357+44_357+48delinsACTTC MANE Select	NP_000457.1:n.357+44_357+48delinsACTTC
NM_001282677.2:c.357+44_357+48delinsACTTC	NP_001269606.1:n.357+44_357+48delinsACTTC...
NM_001282678.2:c.-268+9_-268+13delinsACTTC	NP_001269607.1:n.-268+9_-268+13delinsACTT...