Canonical Allele Identifier: CA1725938058

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511072_92511074delinsCAG , CM000669.2:g.92511072_92511074delinsCAG	GRCh38
NC_000007.13:g.92140386_92140388delinsCAG , CM000669.1:g.92140386_92140388delinsCAG	GRCh37
NC_000007.12:g.91978322_91978324delinsCAG	NCBI36
NG_008341.1:g.22458_22460delinsCTG
NG_008341.2:g.22458_22460delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-27_1484-25delinsCTG MANE Select	ENSP00000248633.4:n.1484-27_1484-25delinsCTG
ENST00000248633.8:c.1484-27_1484-25delinsCTG	ENSP00000248633.4:n.1484-27_1484-25delinsCTG
ENST00000422866.1:c.385-27_385-25delinsCTG
ENST00000428214.5:c.1484-27_1484-25delinsCTG	ENSP00000394413.1:n.1484-27_1484-25delinsCTG
ENST00000438045.5:c.518-27_518-25delinsCTG	ENSP00000410438.1:n.518-27_518-25delinsCTG
ENST00000476923.1:n.245-27_245-25delinsCTG
ENST00000484913.5:n.1523-27_1523-25delinsCTG
NM_000466.2:c.1484-27_1484-25delinsCTG	NP_000457.1:n.1484-27_1484-25delinsCTG
NM_001282677.1:c.1484-27_1484-25delinsCTG	NP_001269606.1:n.1484-27_1484-25delinsCTG
NM_001282678.1:c.860-27_860-25delinsCTG	NP_001269607.1:n.860-27_860-25delinsCTG
XM_005250433.3:c.-183-27_-183-25delinsCTG	XP_005250490.1:n.-183-27_-183-25delinsCTG
XR_242246.3:n.1580-27_1580-25delinsCTG
XM_017012319.2:c.-183-27_-183-25delinsCTG	XP_016867808.1:n.-183-27_-183-25delinsCTG
XR_001744808.2:n.594-27_594-25delinsCTG
XR_242246.5:n.1531-27_1531-25delinsCTG
NM_000466.3:c.1484-27_1484-25delinsCTG MANE Select	NP_000457.1:n.1484-27_1484-25delinsCTG
NM_001282677.2:c.1484-27_1484-25delinsCTG	NP_001269606.1:n.1484-27_1484-25delinsCTG
NM_001282678.2:c.860-27_860-25delinsCTG	NP_001269607.1:n.860-27_860-25delinsCTG