Canonical Allele Identifier: CA2776947375

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518061_92518062insAC , CM000669.2:g.92518061_92518062insAC	GRCh38
NC_000007.13:g.92147375_92147376insAC , CM000669.1:g.92147375_92147376insAC	GRCh37
NC_000007.12:g.91985311_91985312insAC	NCBI36
NG_008341.1:g.15470_15471insGT
NG_008341.2:g.15470_15471insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.473-20_473-19insGT MANE Select	ENSP00000248633.4:n.473-20_473-19insGT
ENST00000248633.8:c.473-20_473-19insGT	ENSP00000248633.4:n.473-20_473-19insGT
ENST00000428214.5:c.473-20_473-19insGT	ENSP00000394413.1:n.473-20_473-19insGT
ENST00000438045.5:c.273+4040_273+4041insGT	ENSP00000410438.1:n.273+4040_273+4041insGT
ENST00000484913.5:n.512-20_512-19insGT
NM_000466.2:c.473-20_473-19insGT	NP_000457.1:n.473-20_473-19insGT
NM_001282677.1:c.473-20_473-19insGT	NP_001269606.1:n.473-20_473-19insGT
NM_001282678.1:c.-152-20_-152-19insGT	NP_001269607.1:n.-152-20_-152-19insGT
XR_242246.3:n.569-20_569-19insGT
XR_242246.5:n.520-20_520-19insGT
NM_000466.3:c.473-20_473-19insGT MANE Select	NP_000457.1:n.473-20_473-19insGT
NM_001282677.2:c.473-20_473-19insGT	NP_001269606.1:n.473-20_473-19insGT
NM_001282678.2:c.-152-20_-152-19insGT	NP_001269607.1:n.-152-20_-152-19insGT