Canonical Allele Identifier: CA1725940815

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506038_92506039delinsGA , CM000669.2:g.92506038_92506039delinsGA	GRCh38
NC_000007.13:g.92135352_92135353delinsGA , CM000669.1:g.92135352_92135353delinsGA	GRCh37
NC_000007.12:g.91973288_91973289delinsGA	NCBI36
NG_008341.1:g.27493_27494delinsTC
NG_008341.2:g.27493_27494delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+209_1900+210delinsTC MANE Select	ENSP00000248633.4:n.1900+209_1900+210delinsTC
ENST00000248633.8:c.1900+209_1900+210delinsTC	ENSP00000248633.4:n.1900+209_1900+210delinsTC
ENST00000422866.1:c.718+209_718+210delinsTC
ENST00000428214.5:c.1900+209_1900+210delinsTC	ENSP00000394413.1:n.1900+209_1900+210delinsTC
ENST00000438045.5:c.934+209_934+210delinsTC	ENSP00000410438.1:n.934+209_934+210delinsTC
ENST00000484913.5:n.1939+209_1939+210delinsTC
ENST00000496420.5:n.1576+209_1576+210delinsTC
NM_000466.2:c.1900+209_1900+210delinsTC	NP_000457.1:n.1900+209_1900+210delinsTC
NM_001282677.1:c.1900+209_1900+210delinsTC	NP_001269606.1:n.1900+209_1900+210delinsTC
NM_001282678.1:c.1276+209_1276+210delinsTC	NP_001269607.1:n.1276+209_1276+210delinsTC
XM_005250433.3:c.151+209_151+210delinsTC	XP_005250490.1:n.151+209_151+210delinsTC
XR_242246.3:n.1996+209_1996+210delinsTC
XM_017012319.2:c.151+209_151+210delinsTC	XP_016867808.1:n.151+209_151+210delinsTC
XR_001744808.2:n.927+209_927+210delinsTC
XR_242246.5:n.1947+209_1947+210delinsTC
NM_000466.3:c.1900+209_1900+210delinsTC MANE Select	NP_000457.1:n.1900+209_1900+210delinsTC
NM_001282677.2:c.1900+209_1900+210delinsTC	NP_001269606.1:n.1900+209_1900+210delinsTC
NM_001282678.2:c.1276+209_1276+210delinsTC	NP_001269607.1:n.1276+209_1276+210delinsTC