Canonical Allele Identifier: CA1725939385

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504974_92504975delinsAG , CM000669.2:g.92504974_92504975delinsAG	GRCh38
NC_000007.13:g.92134288_92134289delinsAG , CM000669.1:g.92134288_92134289delinsAG	GRCh37
NC_000007.12:g.91972224_91972225delinsAG	NCBI36
NG_008341.1:g.28557_28558delinsCT
NG_008341.2:g.28557_28558delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-73_1901-72delinsCT MANE Select	ENSP00000248633.4:n.1901-73_1901-72delinsCT
ENST00000248633.8:c.1901-73_1901-72delinsCT	ENSP00000248633.4:n.1901-73_1901-72delinsCT
ENST00000422866.1:c.719-73_719-72delinsCT
ENST00000428214.5:c.1900+1273_1900+1274delinsCT	ENSP00000394413.1:n.1900+1273_1900+1274delinsCT
ENST00000438045.5:c.935-73_935-72delinsCT	ENSP00000410438.1:n.935-73_935-72delinsCT
ENST00000484913.5:n.1940-73_1940-72delinsCT
ENST00000496420.5:n.1577-73_1577-72delinsCT
NM_000466.2:c.1901-73_1901-72delinsCT	NP_000457.1:n.1901-73_1901-72delinsCT
NM_001282677.1:c.1900+1273_1900+1274delinsCT	NP_001269606.1:n.1900+1273_1900+1274delinsCT
NM_001282678.1:c.1277-73_1277-72delinsCT	NP_001269607.1:n.1277-73_1277-72delinsCT
XM_005250433.3:c.152-73_152-72delinsCT	XP_005250490.1:n.152-73_152-72delinsCT
XR_242246.3:n.1997-73_1997-72delinsCT
XM_017012319.2:c.152-73_152-72delinsCT	XP_016867808.1:n.152-73_152-72delinsCT
XR_001744808.2:n.928-73_928-72delinsCT
XR_242246.5:n.1948-73_1948-72delinsCT
NM_000466.3:c.1901-73_1901-72delinsCT MANE Select	NP_000457.1:n.1901-73_1901-72delinsCT
NM_001282677.2:c.1900+1273_1900+1274delinsCT	NP_001269606.1:n.1900+1273_1900+1274delinsCT
NM_001282678.2:c.1277-73_1277-72delinsCT	NP_001269607.1:n.1277-73_1277-72delinsCT