Canonical Allele Identifier: CA1725949171

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518898_92518899delinsCT , CM000669.2:g.92518898_92518899delinsCT	GRCh38
NC_000007.13:g.92148212_92148213delinsCT , CM000669.1:g.92148212_92148213delinsCT	GRCh37
NC_000007.12:g.91986148_91986149delinsCT	NCBI36
NG_008341.1:g.14633_14634delinsAG
NG_008341.2:g.14633_14634delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.357+96_357+97delinsAG MANE Select	ENSP00000248633.4:n.357+96_357+97delinsAG...
ENST00000248633.8:c.357+96_357+97delinsAG	ENSP00000248633.4:n.357+96_357+97delinsAG...
ENST00000428214.5:c.357+96_357+97delinsAG	ENSP00000394413.1:n.357+96_357+97delinsAG...
ENST00000438045.5:c.273+3203_273+3204delinsAG	ENSP00000410438.1:n.273+3203_273+3204deli...
ENST00000484913.5:n.396+61_396+62delinsAG
NM_000466.2:c.357+96_357+97delinsAG	NP_000457.1:n.357+96_357+97delinsAG
NM_001282677.1:c.357+96_357+97delinsAG	NP_001269606.1:n.357+96_357+97delinsAG
NM_001282678.1:c.-268+61_-268+62delinsAG	NP_001269607.1:n.-268+61_-268+62delinsAG
XR_242246.3:n.453+96_453+97delinsAG
XR_242246.5:n.404+96_404+97delinsAG
NM_000466.3:c.357+96_357+97delinsAG MANE Select	NP_000457.1:n.357+96_357+97delinsAG
NM_001282677.2:c.357+96_357+97delinsAG	NP_001269606.1:n.357+96_357+97delinsAG
NM_001282678.2:c.-268+61_-268+62delinsAG	NP_001269607.1:n.-268+61_-268+62delinsAG