Canonical Allele Identifier: CA2776945944

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494656_92494659del , CM000669.2:g.92494656_92494659del	GRCh38
NC_000007.13:g.92123970_92123973del , CM000669.1:g.92123970_92123973del	GRCh37
NC_000007.12:g.91961906_91961909del	NCBI36
NG_008341.1:g.38873_38876del
NG_008341.2:g.38873_38876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-30_2784-27del MANE Select	ENSP00000248633.4:n.2784-30_2784-27del
ENST00000248633.8:c.2784-30_2784-27del	ENSP00000248633.4:n.2784-30_2784-27del
ENST00000428214.5:c.2613-30_2613-27del	ENSP00000394413.1:n.2613-30_2613-27del
ENST00000438045.5:c.1818-30_1818-27del	ENSP00000410438.1:n.1818-30_1818-27del
ENST00000484913.5:n.2823-30_2823-27del
ENST00000496420.5:n.2676-30_2676-27del
NM_000466.2:c.2784-30_2784-27del	NP_000457.1:n.2784-30_2784-27del
NM_001282677.1:c.2613-30_2613-27del	NP_001269606.1:n.2613-30_2613-27del
NM_001282678.1:c.2160-30_2160-27del	NP_001269607.1:n.2160-30_2160-27del
XM_005250433.3:c.1035-30_1035-27del	XP_005250490.1:n.1035-30_1035-27del
XR_242246.3:n.2880-30_2880-27del
XM_017012319.2:c.1035-30_1035-27del	XP_016867808.1:n.1035-30_1035-27del
XR_001744808.2:n.1811-30_1811-27del
XR_242246.5:n.2831-30_2831-27del
NM_000466.3:c.2784-30_2784-27del MANE Select	NP_000457.1:n.2784-30_2784-27del
NM_001282677.2:c.2613-30_2613-27del	NP_001269606.1:n.2613-30_2613-27del
NM_001282678.2:c.2160-30_2160-27del	NP_001269607.1:n.2160-30_2160-27del