Canonical Allele Identifier: CA2776946678

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506371_92506372insAG , CM000669.2:g.92506371_92506372insAG	GRCh38
NC_000007.13:g.92135685_92135686insAG , CM000669.1:g.92135685_92135686insAG	GRCh37
NC_000007.12:g.91973621_91973622insAG	NCBI36
NG_008341.1:g.27160_27161insCT
NG_008341.2:g.27160_27161insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-28_1804-27insCT MANE Select	ENSP00000248633.4:n.1804-28_1804-27insCT
ENST00000248633.8:c.1804-28_1804-27insCT	ENSP00000248633.4:n.1804-28_1804-27insCT
ENST00000422866.1:c.622-28_622-27insCT
ENST00000428214.5:c.1804-28_1804-27insCT	ENSP00000394413.1:n.1804-28_1804-27insCT
ENST00000438045.5:c.838-28_838-27insCT	ENSP00000410438.1:n.838-28_838-27insCT
ENST00000484913.5:n.1843-28_1843-27insCT
ENST00000496420.5:n.1452_1453insCT
NM_000466.2:c.1804-28_1804-27insCT	NP_000457.1:n.1804-28_1804-27insCT
NM_001282677.1:c.1804-28_1804-27insCT	NP_001269606.1:n.1804-28_1804-27insCT
NM_001282678.1:c.1180-28_1180-27insCT	NP_001269607.1:n.1180-28_1180-27insCT
XM_005250433.3:c.55-28_55-27insCT	XP_005250490.1:n.55-28_55-27insCT
XR_242246.3:n.1900-28_1900-27insCT
XM_017012319.2:c.55-28_55-27insCT	XP_016867808.1:n.55-28_55-27insCT
XR_001744808.2:n.831-28_831-27insCT
XR_242246.5:n.1851-28_1851-27insCT
NM_000466.3:c.1804-28_1804-27insCT MANE Select	NP_000457.1:n.1804-28_1804-27insCT
NM_001282677.2:c.1804-28_1804-27insCT	NP_001269606.1:n.1804-28_1804-27insCT
NM_001282678.2:c.1180-28_1180-27insCT	NP_001269607.1:n.1180-28_1180-27insCT