Canonical Allele Identifier: CA2776947657

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522295_92522301del , CM000669.2:g.92522295_92522301del	GRCh38
NC_000007.13:g.92151609_92151615del , CM000669.1:g.92151609_92151615del	GRCh37
NC_000007.12:g.91989545_91989551del	NCBI36
NG_008341.1:g.11234_11240del
NG_008341.2:g.11234_11240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.130-53_130-47del MANE Select	ENSP00000248633.4:n.130-53_130-47del
ENST00000248633.8:c.130-53_130-47del	ENSP00000248633.4:n.130-53_130-47del
ENST00000428214.5:c.130-53_130-47del	ENSP00000394413.1:n.130-53_130-47del
ENST00000438045.5:c.130-53_130-47del	ENSP00000410438.1:n.130-53_130-47del
ENST00000484913.5:n.134-53_134-47del
NM_000466.2:c.130-53_130-47del	NP_000457.1:n.130-53_130-47del
NM_001282677.1:c.130-53_130-47del	NP_001269606.1:n.130-53_130-47del
NM_001282678.1:c.-530-53_-530-47del	NP_001269607.1:n.-530-53_-530-47del
XR_242246.3:n.226-53_226-47del
XR_242246.5:n.177-53_177-47del
NM_000466.3:c.130-53_130-47del MANE Select	NP_000457.1:n.130-53_130-47del
NM_001282677.2:c.130-53_130-47del	NP_001269606.1:n.130-53_130-47del
NM_001282678.2:c.-530-53_-530-47del	NP_001269607.1:n.-530-53_-530-47del