Canonical Allele Identifier: CA2776947519

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518473_92518474insACA , CM000669.2:g.92518473_92518474insACA	GRCh38
NC_000007.13:g.92147787_92147788insACA , CM000669.1:g.92147787_92147788insACA	GRCh37
NC_000007.12:g.91985723_91985724insACA	NCBI36
NG_008341.1:g.15058_15059insTGT
NG_008341.2:g.15058_15059insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-219_358-218insTGT MANE Select	ENSP00000248633.4:n.358-219_358-218insTGT
ENST00000248633.8:c.358-219_358-218insTGT	ENSP00000248633.4:n.358-219_358-218insTGT
ENST00000428214.5:c.358-219_358-218insTGT	ENSP00000394413.1:n.358-219_358-218insTGT
ENST00000438045.5:c.273+3628_273+3629insTGT	ENSP00000410438.1:n.273+3628_273+3629insTGT
ENST00000484913.5:n.397-219_397-218insTGT
NM_000466.2:c.358-219_358-218insTGT	NP_000457.1:n.358-219_358-218insTGT
NM_001282677.1:c.358-219_358-218insTGT	NP_001269606.1:n.358-219_358-218insTGT
NM_001282678.1:c.-267-219_-267-218insTGT	NP_001269607.1:n.-267-219_-267-218insTGT
XR_242246.3:n.454-219_454-218insTGT
XR_242246.5:n.405-219_405-218insTGT
NM_000466.3:c.358-219_358-218insTGT MANE Select	NP_000457.1:n.358-219_358-218insTGT
NM_001282677.2:c.358-219_358-218insTGT	NP_001269606.1:n.358-219_358-218insTGT
NM_001282678.2:c.-267-219_-267-218insTGT	NP_001269607.1:n.-267-219_-267-218insTGT