Canonical Allele Identifier: CA2776947707

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522364_92522370del , CM000669.2:g.92522364_92522370del	GRCh38
NC_000007.13:g.92151678_92151684del , CM000669.1:g.92151678_92151684del	GRCh37
NC_000007.12:g.91989614_91989620del	NCBI36
NG_008341.1:g.11165_11171del
NG_008341.2:g.11165_11171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.130-122_130-116del MANE Select	ENSP00000248633.4:n.130-122_130-116del
ENST00000248633.8:c.130-122_130-116del	ENSP00000248633.4:n.130-122_130-116del
ENST00000428214.5:c.130-122_130-116del	ENSP00000394413.1:n.130-122_130-116del
ENST00000438045.5:c.130-122_130-116del	ENSP00000410438.1:n.130-122_130-116del
ENST00000484913.5:n.134-122_134-116del
NM_000466.2:c.130-122_130-116del	NP_000457.1:n.130-122_130-116del
NM_001282677.1:c.130-122_130-116del	NP_001269606.1:n.130-122_130-116del
NM_001282678.1:c.-530-122_-530-116del	NP_001269607.1:n.-530-122_-530-116del
XR_242246.3:n.226-122_226-116del
XR_242246.5:n.177-122_177-116del
NM_000466.3:c.130-122_130-116del MANE Select	NP_000457.1:n.130-122_130-116del
NM_001282677.2:c.130-122_130-116del	NP_001269606.1:n.130-122_130-116del
NM_001282678.2:c.-530-122_-530-116del	NP_001269607.1:n.-530-122_-530-116del