Canonical Allele Identifier: CA2776946735

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506404_92506405insG , CM000669.2:g.92506404_92506405insG	GRCh38
NC_000007.13:g.92135718_92135719insG , CM000669.1:g.92135718_92135719insG	GRCh37
NC_000007.12:g.91973654_91973655insG	NCBI36
NG_008341.1:g.27127_27128insC
NG_008341.2:g.27127_27128insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-61_1804-60insC MANE Select	ENSP00000248633.4:n.1804-61_1804-60insC
ENST00000248633.8:c.1804-61_1804-60insC	ENSP00000248633.4:n.1804-61_1804-60insC
ENST00000422866.1:c.622-61_622-60insC
ENST00000428214.5:c.1804-61_1804-60insC	ENSP00000394413.1:n.1804-61_1804-60insC
ENST00000438045.5:c.838-61_838-60insC	ENSP00000410438.1:n.838-61_838-60insC
ENST00000484913.5:n.1843-61_1843-60insC
ENST00000496420.5:n.1419_1420insC
NM_000466.2:c.1804-61_1804-60insC	NP_000457.1:n.1804-61_1804-60insC
NM_001282677.1:c.1804-61_1804-60insC	NP_001269606.1:n.1804-61_1804-60insC
NM_001282678.1:c.1180-61_1180-60insC	NP_001269607.1:n.1180-61_1180-60insC
XM_005250433.3:c.55-61_55-60insC	XP_005250490.1:n.55-61_55-60insC
XR_242246.3:n.1900-61_1900-60insC
XM_017012319.2:c.55-61_55-60insC	XP_016867808.1:n.55-61_55-60insC
XR_001744808.2:n.831-61_831-60insC
XR_242246.5:n.1851-61_1851-60insC
NM_000466.3:c.1804-61_1804-60insC MANE Select	NP_000457.1:n.1804-61_1804-60insC
NM_001282677.2:c.1804-61_1804-60insC	NP_001269606.1:n.1804-61_1804-60insC
NM_001282678.2:c.1180-61_1180-60insC	NP_001269607.1:n.1180-61_1180-60insC