Canonical Allele Identifier: CA2683719133

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506207-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506207_92506208insG , CM000669.2:g.92506207_92506208insG	GRCh38
NC_000007.13:g.92135521_92135522insG , CM000669.1:g.92135521_92135522insG	GRCh37
NC_000007.12:g.91973457_91973458insG	NCBI36
NG_008341.1:g.27324_27325insC
NG_008341.2:g.27324_27325insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+40_1900+41insC MANE Select	ENSP00000248633.4:n.1900+40_1900+41insC
ENST00000248633.8:c.1900+40_1900+41insC	ENSP00000248633.4:n.1900+40_1900+41insC
ENST00000422866.1:c.718+40_718+41insC
ENST00000428214.5:c.1900+40_1900+41insC	ENSP00000394413.1:n.1900+40_1900+41insC
ENST00000438045.5:c.934+40_934+41insC	ENSP00000410438.1:n.934+40_934+41insC
ENST00000484913.5:n.1939+40_1939+41insC
ENST00000496420.5:n.1576+40_1576+41insC
NM_000466.2:c.1900+40_1900+41insC	NP_000457.1:n.1900+40_1900+41insC
NM_001282677.1:c.1900+40_1900+41insC	NP_001269606.1:n.1900+40_1900+41insC
NM_001282678.1:c.1276+40_1276+41insC	NP_001269607.1:n.1276+40_1276+41insC
XM_005250433.3:c.151+40_151+41insC	XP_005250490.1:n.151+40_151+41insC
XR_242246.3:n.1996+40_1996+41insC
XM_017012319.2:c.151+40_151+41insC	XP_016867808.1:n.151+40_151+41insC
XR_001744808.2:n.927+40_927+41insC
XR_242246.5:n.1947+40_1947+41insC
NM_000466.3:c.1900+40_1900+41insC MANE Select	NP_000457.1:n.1900+40_1900+41insC
NM_001282677.2:c.1900+40_1900+41insC	NP_001269606.1:n.1900+40_1900+41insC
NM_001282678.2:c.1276+40_1276+41insC	NP_001269607.1:n.1276+40_1276+41insC