Canonical Allele Identifier: CA1725949261

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518989_92518990delinsCT , CM000669.2:g.92518989_92518990delinsCT	GRCh38
NC_000007.13:g.92148303_92148304delinsCT , CM000669.1:g.92148303_92148304delinsCT	GRCh37
NC_000007.12:g.91986239_91986240delinsCT	NCBI36
NG_008341.1:g.14542_14543delinsAG
NG_008341.2:g.14542_14543delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.357+5_357+6delinsAG MANE Select	ENSP00000248633.4:n.357+5_357+6delinsAG
ENST00000248633.8:c.357+5_357+6delinsAG	ENSP00000248633.4:n.357+5_357+6delinsAG
ENST00000428214.5:c.357+5_357+6delinsAG	ENSP00000394413.1:n.357+5_357+6delinsAG
ENST00000438045.5:c.273+3112_273+3113delinsAG	ENSP00000410438.1:n.273+3112_273+3113deli...
ENST00000484913.5:n.366_367delinsAG
NM_000466.2:c.357+5_357+6delinsAG	NP_000457.1:n.357+5_357+6delinsAG
NM_001282677.1:c.357+5_357+6delinsAG	NP_001269606.1:n.357+5_357+6delinsAG
NM_001282678.1:c.-298_-297delinsAG	NP_001269607.1:n.-298_-297delinsAG
XR_242246.3:n.453+5_453+6delinsAG
XR_242246.5:n.404+5_404+6delinsAG
NM_000466.3:c.357+5_357+6delinsAG MANE Select	NP_000457.1:n.357+5_357+6delinsAG
NM_001282677.2:c.357+5_357+6delinsAG	NP_001269606.1:n.357+5_357+6delinsAG
NM_001282678.2:c.-298_-297delinsAG	NP_001269607.1:n.-298_-297delinsAG