Canonical Allele Identifier: CA2776946716

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506402_92506403insA , CM000669.2:g.92506402_92506403insA	GRCh38
NC_000007.13:g.92135716_92135717insA , CM000669.1:g.92135716_92135717insA	GRCh37
NC_000007.12:g.91973652_91973653insA	NCBI36
NG_008341.1:g.27129_27130insT
NG_008341.2:g.27129_27130insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-59_1804-58insT MANE Select	ENSP00000248633.4:n.1804-59_1804-58insT
ENST00000248633.8:c.1804-59_1804-58insT	ENSP00000248633.4:n.1804-59_1804-58insT
ENST00000422866.1:c.622-59_622-58insT
ENST00000428214.5:c.1804-59_1804-58insT	ENSP00000394413.1:n.1804-59_1804-58insT
ENST00000438045.5:c.838-59_838-58insT	ENSP00000410438.1:n.838-59_838-58insT
ENST00000484913.5:n.1843-59_1843-58insT
ENST00000496420.5:n.1421_1422insT
NM_000466.2:c.1804-59_1804-58insT	NP_000457.1:n.1804-59_1804-58insT
NM_001282677.1:c.1804-59_1804-58insT	NP_001269606.1:n.1804-59_1804-58insT
NM_001282678.1:c.1180-59_1180-58insT	NP_001269607.1:n.1180-59_1180-58insT
XM_005250433.3:c.55-59_55-58insT	XP_005250490.1:n.55-59_55-58insT
XR_242246.3:n.1900-59_1900-58insT
XM_017012319.2:c.55-59_55-58insT	XP_016867808.1:n.55-59_55-58insT
XR_001744808.2:n.831-59_831-58insT
XR_242246.5:n.1851-59_1851-58insT
NM_000466.3:c.1804-59_1804-58insT MANE Select	NP_000457.1:n.1804-59_1804-58insT
NM_001282677.2:c.1804-59_1804-58insT	NP_001269606.1:n.1804-59_1804-58insT
NM_001282678.2:c.1180-59_1180-58insT	NP_001269607.1:n.1180-59_1180-58insT