Canonical Allele Identifier: CA2776947372

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518060_92518062del , CM000669.2:g.92518060_92518062del	GRCh38
NC_000007.13:g.92147374_92147376del , CM000669.1:g.92147374_92147376del	GRCh37
NC_000007.12:g.91985310_91985312del	NCBI36
NG_008341.1:g.15470_15472del
NG_008341.2:g.15470_15472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.473-20_473-18del MANE Select	ENSP00000248633.4:n.473-20_473-18del
ENST00000248633.8:c.473-20_473-18del	ENSP00000248633.4:n.473-20_473-18del
ENST00000428214.5:c.473-20_473-18del	ENSP00000394413.1:n.473-20_473-18del
ENST00000438045.5:c.273+4040_273+4042del	ENSP00000410438.1:n.273+4040_273+4042del
ENST00000484913.5:n.512-20_512-18del
NM_000466.2:c.473-20_473-18del	NP_000457.1:n.473-20_473-18del
NM_001282677.1:c.473-20_473-18del	NP_001269606.1:n.473-20_473-18del
NM_001282678.1:c.-152-20_-152-18del	NP_001269607.1:n.-152-20_-152-18del
XR_242246.3:n.569-20_569-18del
XR_242246.5:n.520-20_520-18del
NM_000466.3:c.473-20_473-18del MANE Select	NP_000457.1:n.473-20_473-18del
NM_001282677.2:c.473-20_473-18del	NP_001269606.1:n.473-20_473-18del
NM_001282678.2:c.-152-20_-152-18del	NP_001269607.1:n.-152-20_-152-18del