Canonical Allele Identifier: CA2776946138

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92500016_92500017insAGA , CM000669.2:g.92500016_92500017insAGA	GRCh38
NC_000007.13:g.92129330_92129331insAGA , CM000669.1:g.92129330_92129331insAGA	GRCh37
NC_000007.12:g.91967266_91967267insAGA	NCBI36
NG_008341.1:g.33515_33516insTCT
NG_008341.2:g.33515_33516insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-179_2584-178insTCT MANE Select	ENSP00000248633.4:n.2584-179_2584-178insTCT
ENST00000248633.8:c.2584-179_2584-178insTCT	ENSP00000248633.4:n.2584-179_2584-178insTCT
ENST00000428214.5:c.2413-179_2413-178insTCT	ENSP00000394413.1:n.2413-179_2413-178insTCT
ENST00000438045.5:c.1618-179_1618-178insTCT	ENSP00000410438.1:n.1618-179_1618-178insTCT
ENST00000484913.5:n.2623-179_2623-178insTCT
ENST00000496420.5:n.2476-179_2476-178insTCT
NM_000466.2:c.2584-179_2584-178insTCT	NP_000457.1:n.2584-179_2584-178insTCT
NM_001282677.1:c.2413-179_2413-178insTCT	NP_001269606.1:n.2413-179_2413-178insTCT
NM_001282678.1:c.1960-179_1960-178insTCT	NP_001269607.1:n.1960-179_1960-178insTCT
XM_005250433.3:c.835-179_835-178insTCT	XP_005250490.1:n.835-179_835-178insTCT
XR_242246.3:n.2680-179_2680-178insTCT
XM_017012319.2:c.835-179_835-178insTCT	XP_016867808.1:n.835-179_835-178insTCT
XR_001744808.2:n.1611-179_1611-178insTCT
XR_242246.5:n.2631-179_2631-178insTCT
NM_000466.3:c.2584-179_2584-178insTCT MANE Select	NP_000457.1:n.2584-179_2584-178insTCT
NM_001282677.2:c.2413-179_2413-178insTCT	NP_001269606.1:n.2413-179_2413-178insTCT
NM_001282678.2:c.1960-179_1960-178insTCT	NP_001269607.1:n.1960-179_1960-178insTCT