Canonical Allele Identifier: CA2776945949

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499858_92499859insCAC , CM000669.2:g.92499858_92499859insCAC	GRCh38
NC_000007.13:g.92129172_92129173insCAC , CM000669.1:g.92129172_92129173insCAC	GRCh37
NC_000007.12:g.91967108_91967109insCAC	NCBI36
NG_008341.1:g.33673_33674insGTG
NG_008341.2:g.33673_33674insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-21_2584-20insGTG MANE Select	ENSP00000248633.4:n.2584-21_2584-20insGTG
ENST00000248633.8:c.2584-21_2584-20insGTG	ENSP00000248633.4:n.2584-21_2584-20insGTG
ENST00000428214.5:c.2413-21_2413-20insGTG	ENSP00000394413.1:n.2413-21_2413-20insGTG
ENST00000438045.5:c.1618-21_1618-20insGTG	ENSP00000410438.1:n.1618-21_1618-20insGTG
ENST00000484913.5:n.2623-21_2623-20insGTG
ENST00000496420.5:n.2476-21_2476-20insGTG
NM_000466.2:c.2584-21_2584-20insGTG	NP_000457.1:n.2584-21_2584-20insGTG
NM_001282677.1:c.2413-21_2413-20insGTG	NP_001269606.1:n.2413-21_2413-20insGTG
NM_001282678.1:c.1960-21_1960-20insGTG	NP_001269607.1:n.1960-21_1960-20insGTG
XM_005250433.3:c.835-21_835-20insGTG	XP_005250490.1:n.835-21_835-20insGTG
XR_242246.3:n.2680-21_2680-20insGTG
XM_017012319.2:c.835-21_835-20insGTG	XP_016867808.1:n.835-21_835-20insGTG
XR_001744808.2:n.1611-21_1611-20insGTG
XR_242246.5:n.2631-21_2631-20insGTG
NM_000466.3:c.2584-21_2584-20insGTG MANE Select	NP_000457.1:n.2584-21_2584-20insGTG
NM_001282677.2:c.2413-21_2413-20insGTG	NP_001269606.1:n.2413-21_2413-20insGTG
NM_001282678.2:c.1960-21_1960-20insGTG	NP_001269607.1:n.1960-21_1960-20insGTG