Canonical Allele Identifier: CA1725949215

Gene: PEX1

Linked Data

• dbSNP Id: rs1792929832

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518950_92518953del , CM000669.2:g.92518950_92518953del	GRCh38
NC_000007.13:g.92148264_92148267del , CM000669.1:g.92148264_92148267del	GRCh37
NC_000007.12:g.91986200_91986203del	NCBI36
NG_008341.1:g.14581_14584del
NG_008341.2:g.14581_14584del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.357+44_357+47del MANE Select	ENSP00000248633.4:n.357+44_357+47del
ENST00000248633.8:c.357+44_357+47del	ENSP00000248633.4:n.357+44_357+47del
ENST00000428214.5:c.357+44_357+47del	ENSP00000394413.1:n.357+44_357+47del
ENST00000438045.5:c.273+3151_273+3154del	ENSP00000410438.1:n.273+3151_273+3154del
ENST00000484913.5:n.396+9_396+12del
NM_000466.2:c.357+44_357+47del	NP_000457.1:n.357+44_357+47del
NM_001282677.1:c.357+44_357+47del	NP_001269606.1:n.357+44_357+47del
NM_001282678.1:c.-268+9_-268+12del	NP_001269607.1:n.-268+9_-268+12del
XR_242246.3:n.453+44_453+47del
XR_242246.5:n.404+44_404+47del
NM_000466.3:c.357+44_357+47del MANE Select	NP_000457.1:n.357+44_357+47del
NM_001282677.2:c.357+44_357+47del	NP_001269606.1:n.357+44_357+47del
NM_001282678.2:c.-268+9_-268+12del	NP_001269607.1:n.-268+9_-268+12del