Canonical Allele Identifier: CA2573332217

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496288_92497028del , CM000669.2:g.92496288_92497028del	GRCh38
NC_000007.13:g.92125602_92126342del , CM000669.1:g.92125602_92126342del	GRCh37
NC_000007.12:g.91963538_91964278del	NCBI36
NG_008341.1:g.36504_37244del
NG_008341.2:g.36504_37244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-251_2783+425del
ENST00000248633.8:c.2719-251_2783+425del
ENST00000428214.5:c.2548-251_2612+425del
ENST00000438045.5:c.1753-251_1817+425del
ENST00000484913.5:n.2758-251_2822+425del
ENST00000496420.5:n.2611-251_2675+425del
NM_000466.2:c.2719-251_2783+425del
NM_001282677.1:c.2548-251_2612+425del
NM_001282678.1:c.2095-251_2159+425del
XM_005250433.3:c.970-251_1034+425del
XR_242246.3:n.2815-251_2879+425del
XM_017012319.2:c.970-251_1034+425del
XR_001744808.2:n.1746-251_1810+425del
XR_242246.5:n.2766-251_2830+425del
NM_000466.3:c.2719-251_2783+425del
NM_001282677.2:c.2548-251_2612+425del
NM_001282678.2:c.2095-251_2159+425del