Canonical Allele Identifier: CA2776947551

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519103_92519104insA , CM000669.2:g.92519103_92519104insA	GRCh38
NC_000007.13:g.92148417_92148418insA , CM000669.1:g.92148417_92148418insA	GRCh37
NC_000007.12:g.91986353_91986354insA	NCBI36
NG_008341.1:g.14428_14429insT
NG_008341.2:g.14428_14429insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-26_274-25insT MANE Select	ENSP00000248633.4:n.274-26_274-25insT
ENST00000248633.8:c.274-26_274-25insT	ENSP00000248633.4:n.274-26_274-25insT
ENST00000428214.5:c.274-26_274-25insT	ENSP00000394413.1:n.274-26_274-25insT
ENST00000438045.5:c.273+2998_273+2999insT	ENSP00000410438.1:n.273+2998_273+2999insT
ENST00000484913.5:n.278-26_278-25insT
NM_000466.2:c.274-26_274-25insT	NP_000457.1:n.274-26_274-25insT
NM_001282677.1:c.274-26_274-25insT	NP_001269606.1:n.274-26_274-25insT
NM_001282678.1:c.-386-26_-386-25insT	NP_001269607.1:n.-386-26_-386-25insT
XR_242246.3:n.370-26_370-25insT
XR_242246.5:n.321-26_321-25insT
NM_000466.3:c.274-26_274-25insT MANE Select	NP_000457.1:n.274-26_274-25insT
NM_001282677.2:c.274-26_274-25insT	NP_001269606.1:n.274-26_274-25insT
NM_001282678.2:c.-386-26_-386-25insT	NP_001269607.1:n.-386-26_-386-25insT