Canonical Allele Identifier: CA1725938479

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504544_92504546delinsACT , CM000669.2:g.92504544_92504546delinsACT	GRCh38
NC_000007.13:g.92133858_92133860delinsACT , CM000669.1:g.92133858_92133860delinsACT	GRCh37
NC_000007.12:g.91971794_91971796delinsACT	NCBI36
NG_008341.1:g.28986_28988delinsAGT
NG_008341.2:g.28986_28988delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2071+186_2071+188delinsAGT MANE Select	ENSP00000248633.4:n.2071+186_2071+188delinsAGT
ENST00000248633.8:c.2071+186_2071+188delinsAGT	ENSP00000248633.4:n.2071+186_2071+188delinsAGT
ENST00000428214.5:c.1901-1351_1901-1349delinsAGT	ENSP00000394413.1:n.1901-1351_1901-1349delinsAGT
ENST00000438045.5:c.1105+186_1105+188delinsAGT	ENSP00000410438.1:n.1105+186_1105+188delinsAGT
ENST00000484913.5:n.2110+186_2110+188delinsAGT
ENST00000496420.5:n.1747+186_1747+188delinsAGT
NM_000466.2:c.2071+186_2071+188delinsAGT	NP_000457.1:n.2071+186_2071+188delinsAGT
NM_001282677.1:c.1901-1351_1901-1349delinsAGT	NP_001269606.1:n.1901-1351_1901-1349delinsAGT
NM_001282678.1:c.1447+186_1447+188delinsAGT	NP_001269607.1:n.1447+186_1447+188delinsAGT
XM_005250433.3:c.322+186_322+188delinsAGT	XP_005250490.1:n.322+186_322+188delinsAGT
XR_242246.3:n.2167+186_2167+188delinsAGT
XM_017012319.2:c.322+186_322+188delinsAGT	XP_016867808.1:n.322+186_322+188delinsAGT
XR_001744808.2:n.1098+186_1098+188delinsAGT
XR_242246.5:n.2118+186_2118+188delinsAGT
NM_000466.3:c.2071+186_2071+188delinsAGT MANE Select	NP_000457.1:n.2071+186_2071+188delinsAGT
NM_001282677.2:c.1901-1351_1901-1349delinsAGT	NP_001269606.1:n.1901-1351_1901-1349delinsAGT
NM_001282678.2:c.1447+186_1447+188delinsAGT	NP_001269607.1:n.1447+186_1447+188delinsAGT