Canonical Allele Identifier: CA2776947349

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518042_92518071del , CM000669.2:g.92518042_92518071del	GRCh38
NC_000007.13:g.92147356_92147385del , CM000669.1:g.92147356_92147385del	GRCh37
NC_000007.12:g.91985292_91985321del	NCBI36
NG_008341.1:g.15470_15499del
NG_008341.2:g.15470_15499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.473-20_482del
ENST00000248633.8:c.473-20_482del
ENST00000428214.5:c.473-20_482del
ENST00000438045.5:c.273+4040_274-4066del	ENSP00000410438.1:n.273+4040_274-4066del
ENST00000484913.5:n.512-20_521del
NM_000466.2:c.473-20_482del
NM_001282677.1:c.473-20_482del
NM_001282678.1:c.-152-20_-143del
XR_242246.3:n.569-20_578del
XR_242246.5:n.520-20_529del
NM_000466.3:c.473-20_482del
NM_001282677.2:c.473-20_482del
NM_001282678.2:c.-152-20_-143del