Canonical Allele Identifier: CA2776946003

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494695_92494696insGTT , CM000669.2:g.92494695_92494696insGTT	GRCh38
NC_000007.13:g.92124009_92124010insGTT , CM000669.1:g.92124009_92124010insGTT	GRCh37
NC_000007.12:g.91961945_91961946insGTT	NCBI36
NG_008341.1:g.38836_38837insAAC
NG_008341.2:g.38836_38837insAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-67_2784-66insAAC MANE Select	ENSP00000248633.4:n.2784-67_2784-66insAAC
ENST00000248633.8:c.2784-67_2784-66insAAC	ENSP00000248633.4:n.2784-67_2784-66insAAC
ENST00000428214.5:c.2613-67_2613-66insAAC	ENSP00000394413.1:n.2613-67_2613-66insAAC
ENST00000438045.5:c.1818-67_1818-66insAAC	ENSP00000410438.1:n.1818-67_1818-66insAAC
ENST00000484913.5:n.2823-67_2823-66insAAC
ENST00000496420.5:n.2676-67_2676-66insAAC
NM_000466.2:c.2784-67_2784-66insAAC	NP_000457.1:n.2784-67_2784-66insAAC
NM_001282677.1:c.2613-67_2613-66insAAC	NP_001269606.1:n.2613-67_2613-66insAAC
NM_001282678.1:c.2160-67_2160-66insAAC	NP_001269607.1:n.2160-67_2160-66insAAC
XM_005250433.3:c.1035-67_1035-66insAAC	XP_005250490.1:n.1035-67_1035-66insAAC
XR_242246.3:n.2880-67_2880-66insAAC
XM_017012319.2:c.1035-67_1035-66insAAC	XP_016867808.1:n.1035-67_1035-66insAAC
XR_001744808.2:n.1811-67_1811-66insAAC
XR_242246.5:n.2831-67_2831-66insAAC
NM_000466.3:c.2784-67_2784-66insAAC MANE Select	NP_000457.1:n.2784-67_2784-66insAAC
NM_001282677.2:c.2613-67_2613-66insAAC	NP_001269606.1:n.2613-67_2613-66insAAC
NM_001282678.2:c.2160-67_2160-66insAAC	NP_001269607.1:n.2160-67_2160-66insAAC