Canonical Allele Identifier: CA1725939326

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504950_92504951delinsGA , CM000669.2:g.92504950_92504951delinsGA	GRCh38
NC_000007.13:g.92134264_92134265delinsGA , CM000669.1:g.92134264_92134265delinsGA	GRCh37
NC_000007.12:g.91972200_91972201delinsGA	NCBI36
NG_008341.1:g.28581_28582delinsTC
NG_008341.2:g.28581_28582delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-49_1901-48delinsTC MANE Select	ENSP00000248633.4:n.1901-49_1901-48delinsTC
ENST00000248633.8:c.1901-49_1901-48delinsTC	ENSP00000248633.4:n.1901-49_1901-48delinsTC
ENST00000422866.1:c.719-49_719-48delinsTC
ENST00000428214.5:c.1900+1297_1900+1298delinsTC	ENSP00000394413.1:n.1900+1297_1900+1298delinsTC
ENST00000438045.5:c.935-49_935-48delinsTC	ENSP00000410438.1:n.935-49_935-48delinsTC
ENST00000484913.5:n.1940-49_1940-48delinsTC
ENST00000496420.5:n.1577-49_1577-48delinsTC
NM_000466.2:c.1901-49_1901-48delinsTC	NP_000457.1:n.1901-49_1901-48delinsTC
NM_001282677.1:c.1900+1297_1900+1298delinsTC	NP_001269606.1:n.1900+1297_1900+1298delinsTC
NM_001282678.1:c.1277-49_1277-48delinsTC	NP_001269607.1:n.1277-49_1277-48delinsTC
XM_005250433.3:c.152-49_152-48delinsTC	XP_005250490.1:n.152-49_152-48delinsTC
XR_242246.3:n.1997-49_1997-48delinsTC
XM_017012319.2:c.152-49_152-48delinsTC	XP_016867808.1:n.152-49_152-48delinsTC
XR_001744808.2:n.928-49_928-48delinsTC
XR_242246.5:n.1948-49_1948-48delinsTC
NM_000466.3:c.1901-49_1901-48delinsTC MANE Select	NP_000457.1:n.1901-49_1901-48delinsTC
NM_001282677.2:c.1900+1297_1900+1298delinsTC	NP_001269606.1:n.1900+1297_1900+1298delinsTC
NM_001282678.2:c.1277-49_1277-48delinsTC	NP_001269607.1:n.1277-49_1277-48delinsTC