Canonical Allele Identifier: CA2776945966

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494677_92494681del , CM000669.2:g.92494677_92494681del	GRCh38
NC_000007.13:g.92123991_92123995del , CM000669.1:g.92123991_92123995del	GRCh37
NC_000007.12:g.91961927_91961931del	NCBI36
NG_008341.1:g.38851_38855del
NG_008341.2:g.38851_38855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-52_2784-48del MANE Select	ENSP00000248633.4:n.2784-52_2784-48del
ENST00000248633.8:c.2784-52_2784-48del	ENSP00000248633.4:n.2784-52_2784-48del
ENST00000428214.5:c.2613-52_2613-48del	ENSP00000394413.1:n.2613-52_2613-48del
ENST00000438045.5:c.1818-52_1818-48del	ENSP00000410438.1:n.1818-52_1818-48del
ENST00000484913.5:n.2823-52_2823-48del
ENST00000496420.5:n.2676-52_2676-48del
NM_000466.2:c.2784-52_2784-48del	NP_000457.1:n.2784-52_2784-48del
NM_001282677.1:c.2613-52_2613-48del	NP_001269606.1:n.2613-52_2613-48del
NM_001282678.1:c.2160-52_2160-48del	NP_001269607.1:n.2160-52_2160-48del
XM_005250433.3:c.1035-52_1035-48del	XP_005250490.1:n.1035-52_1035-48del
XR_242246.3:n.2880-52_2880-48del
XM_017012319.2:c.1035-52_1035-48del	XP_016867808.1:n.1035-52_1035-48del
XR_001744808.2:n.1811-52_1811-48del
XR_242246.5:n.2831-52_2831-48del
NM_000466.3:c.2784-52_2784-48del MANE Select	NP_000457.1:n.2784-52_2784-48del
NM_001282677.2:c.2613-52_2613-48del	NP_001269606.1:n.2613-52_2613-48del
NM_001282678.2:c.2160-52_2160-48del	NP_001269607.1:n.2160-52_2160-48del