Canonical Allele Identifier: CA2776947555

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519113_92519116del , CM000669.2:g.92519113_92519116del	GRCh38
NC_000007.13:g.92148427_92148430del , CM000669.1:g.92148427_92148430del	GRCh37
NC_000007.12:g.91986363_91986366del	NCBI36
NG_008341.1:g.14419_14422del
NG_008341.2:g.14419_14422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-35_274-32del MANE Select	ENSP00000248633.4:n.274-35_274-32del
ENST00000248633.8:c.274-35_274-32del	ENSP00000248633.4:n.274-35_274-32del
ENST00000428214.5:c.274-35_274-32del	ENSP00000394413.1:n.274-35_274-32del
ENST00000438045.5:c.273+2989_273+2992del	ENSP00000410438.1:n.273+2989_273+2992del
ENST00000484913.5:n.278-35_278-32del
NM_000466.2:c.274-35_274-32del	NP_000457.1:n.274-35_274-32del
NM_001282677.1:c.274-35_274-32del	NP_001269606.1:n.274-35_274-32del
NM_001282678.1:c.-386-35_-386-32del	NP_001269607.1:n.-386-35_-386-32del
XR_242246.3:n.370-35_370-32del
XR_242246.5:n.321-35_321-32del
NM_000466.3:c.274-35_274-32del MANE Select	NP_000457.1:n.274-35_274-32del
NM_001282677.2:c.274-35_274-32del	NP_001269606.1:n.274-35_274-32del
NM_001282678.2:c.-386-35_-386-32del	NP_001269607.1:n.-386-35_-386-32del