Canonical Allele Identifier: CA1725939290

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504936_92504937delinsCA , CM000669.2:g.92504936_92504937delinsCA	GRCh38
NC_000007.13:g.92134250_92134251delinsCA , CM000669.1:g.92134250_92134251delinsCA	GRCh37
NC_000007.12:g.91972186_91972187delinsCA	NCBI36
NG_008341.1:g.28595_28596delinsTG
NG_008341.2:g.28595_28596delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-35_1901-34delinsTG MANE Select	ENSP00000248633.4:n.1901-35_1901-34delinsTG
ENST00000248633.8:c.1901-35_1901-34delinsTG	ENSP00000248633.4:n.1901-35_1901-34delinsTG
ENST00000422866.1:c.719-35_719-34delinsTG
ENST00000428214.5:c.1900+1311_1900+1312delinsTG	ENSP00000394413.1:n.1900+1311_1900+1312delinsTG
ENST00000438045.5:c.935-35_935-34delinsTG	ENSP00000410438.1:n.935-35_935-34delinsTG
ENST00000484913.5:n.1940-35_1940-34delinsTG
ENST00000496420.5:n.1577-35_1577-34delinsTG
NM_000466.2:c.1901-35_1901-34delinsTG	NP_000457.1:n.1901-35_1901-34delinsTG
NM_001282677.1:c.1900+1311_1900+1312delinsTG	NP_001269606.1:n.1900+1311_1900+1312delinsTG
NM_001282678.1:c.1277-35_1277-34delinsTG	NP_001269607.1:n.1277-35_1277-34delinsTG
XM_005250433.3:c.152-35_152-34delinsTG	XP_005250490.1:n.152-35_152-34delinsTG
XR_242246.3:n.1997-35_1997-34delinsTG
XM_017012319.2:c.152-35_152-34delinsTG	XP_016867808.1:n.152-35_152-34delinsTG
XR_001744808.2:n.928-35_928-34delinsTG
XR_242246.5:n.1948-35_1948-34delinsTG
NM_000466.3:c.1901-35_1901-34delinsTG MANE Select	NP_000457.1:n.1901-35_1901-34delinsTG
NM_001282677.2:c.1900+1311_1900+1312delinsTG	NP_001269606.1:n.1900+1311_1900+1312delinsTG
NM_001282678.2:c.1277-35_1277-34delinsTG	NP_001269607.1:n.1277-35_1277-34delinsTG