Canonical Allele Identifier: CA1725939273

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504929_92504930delinsTC , CM000669.2:g.92504929_92504930delinsTC	GRCh38
NC_000007.13:g.92134243_92134244delinsTC , CM000669.1:g.92134243_92134244delinsTC	GRCh37
NC_000007.12:g.91972179_91972180delinsTC	NCBI36
NG_008341.1:g.28602_28603delinsGA
NG_008341.2:g.28602_28603delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-28_1901-27delinsGA MANE Select	ENSP00000248633.4:n.1901-28_1901-27delinsGA
ENST00000248633.8:c.1901-28_1901-27delinsGA	ENSP00000248633.4:n.1901-28_1901-27delinsGA
ENST00000422866.1:c.719-28_719-27delinsGA
ENST00000428214.5:c.1900+1318_1900+1319delinsGA	ENSP00000394413.1:n.1900+1318_1900+1319delinsGA
ENST00000438045.5:c.935-28_935-27delinsGA	ENSP00000410438.1:n.935-28_935-27delinsGA
ENST00000484913.5:n.1940-28_1940-27delinsGA
ENST00000496420.5:n.1577-28_1577-27delinsGA
NM_000466.2:c.1901-28_1901-27delinsGA	NP_000457.1:n.1901-28_1901-27delinsGA
NM_001282677.1:c.1900+1318_1900+1319delinsGA	NP_001269606.1:n.1900+1318_1900+1319delinsGA
NM_001282678.1:c.1277-28_1277-27delinsGA	NP_001269607.1:n.1277-28_1277-27delinsGA
XM_005250433.3:c.152-28_152-27delinsGA	XP_005250490.1:n.152-28_152-27delinsGA
XR_242246.3:n.1997-28_1997-27delinsGA
XM_017012319.2:c.152-28_152-27delinsGA	XP_016867808.1:n.152-28_152-27delinsGA
XR_001744808.2:n.928-28_928-27delinsGA
XR_242246.5:n.1948-28_1948-27delinsGA
NM_000466.3:c.1901-28_1901-27delinsGA MANE Select	NP_000457.1:n.1901-28_1901-27delinsGA
NM_001282677.2:c.1900+1318_1900+1319delinsGA	NP_001269606.1:n.1900+1318_1900+1319delinsGA
NM_001282678.2:c.1277-28_1277-27delinsGA	NP_001269607.1:n.1277-28_1277-27delinsGA