Canonical Allele Identifier: CA1725938091

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511089_92511091delinsCAG , CM000669.2:g.92511089_92511091delinsCAG	GRCh38
NC_000007.13:g.92140403_92140405delinsCAG , CM000669.1:g.92140403_92140405delinsCAG	GRCh37
NC_000007.12:g.91978339_91978341delinsCAG	NCBI36
NG_008341.1:g.22441_22443delinsCTG
NG_008341.2:g.22441_22443delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-44_1484-42delinsCTG MANE Select	ENSP00000248633.4:n.1484-44_1484-42delinsCTG
ENST00000248633.8:c.1484-44_1484-42delinsCTG	ENSP00000248633.4:n.1484-44_1484-42delinsCTG
ENST00000422866.1:c.385-44_385-42delinsCTG
ENST00000428214.5:c.1484-44_1484-42delinsCTG	ENSP00000394413.1:n.1484-44_1484-42delinsCTG
ENST00000438045.5:c.518-44_518-42delinsCTG	ENSP00000410438.1:n.518-44_518-42delinsCTG
ENST00000476923.1:n.245-44_245-42delinsCTG
ENST00000484913.5:n.1523-44_1523-42delinsCTG
NM_000466.2:c.1484-44_1484-42delinsCTG	NP_000457.1:n.1484-44_1484-42delinsCTG
NM_001282677.1:c.1484-44_1484-42delinsCTG	NP_001269606.1:n.1484-44_1484-42delinsCTG
NM_001282678.1:c.860-44_860-42delinsCTG	NP_001269607.1:n.860-44_860-42delinsCTG
XM_005250433.3:c.-183-44_-183-42delinsCTG	XP_005250490.1:n.-183-44_-183-42delinsCTG
XR_242246.3:n.1580-44_1580-42delinsCTG
XM_017012319.2:c.-183-44_-183-42delinsCTG	XP_016867808.1:n.-183-44_-183-42delinsCTG
XR_001744808.2:n.594-44_594-42delinsCTG
XR_242246.5:n.1531-44_1531-42delinsCTG
NM_000466.3:c.1484-44_1484-42delinsCTG MANE Select	NP_000457.1:n.1484-44_1484-42delinsCTG
NM_001282677.2:c.1484-44_1484-42delinsCTG	NP_001269606.1:n.1484-44_1484-42delinsCTG
NM_001282678.2:c.860-44_860-42delinsCTG	NP_001269607.1:n.860-44_860-42delinsCTG