Canonical Allele Identifier: CA2776946459

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504947_92504948insAC , CM000669.2:g.92504947_92504948insAC	GRCh38
NC_000007.13:g.92134261_92134262insAC , CM000669.1:g.92134261_92134262insAC	GRCh37
NC_000007.12:g.91972197_91972198insAC	NCBI36
NG_008341.1:g.28584_28585insGT
NG_008341.2:g.28584_28585insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-46_1901-45insGT MANE Select	ENSP00000248633.4:n.1901-46_1901-45insGT
ENST00000248633.8:c.1901-46_1901-45insGT	ENSP00000248633.4:n.1901-46_1901-45insGT
ENST00000422866.1:c.719-46_719-45insGT
ENST00000428214.5:c.1900+1300_1900+1301insGT	ENSP00000394413.1:n.1900+1300_1900+1301insGT
ENST00000438045.5:c.935-46_935-45insGT	ENSP00000410438.1:n.935-46_935-45insGT
ENST00000484913.5:n.1940-46_1940-45insGT
ENST00000496420.5:n.1577-46_1577-45insGT
NM_000466.2:c.1901-46_1901-45insGT	NP_000457.1:n.1901-46_1901-45insGT
NM_001282677.1:c.1900+1300_1900+1301insGT	NP_001269606.1:n.1900+1300_1900+1301insGT
NM_001282678.1:c.1277-46_1277-45insGT	NP_001269607.1:n.1277-46_1277-45insGT
XM_005250433.3:c.152-46_152-45insGT	XP_005250490.1:n.152-46_152-45insGT
XR_242246.3:n.1997-46_1997-45insGT
XM_017012319.2:c.152-46_152-45insGT	XP_016867808.1:n.152-46_152-45insGT
XR_001744808.2:n.928-46_928-45insGT
XR_242246.5:n.1948-46_1948-45insGT
NM_000466.3:c.1901-46_1901-45insGT MANE Select	NP_000457.1:n.1901-46_1901-45insGT
NM_001282677.2:c.1900+1300_1900+1301insGT	NP_001269606.1:n.1900+1300_1900+1301insGT
NM_001282678.2:c.1277-46_1277-45insGT	NP_001269607.1:n.1277-46_1277-45insGT