Canonical Allele Identifier: CA2776945978

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494686_92494688del , CM000669.2:g.92494686_92494688del	GRCh38
NC_000007.13:g.92124000_92124002del , CM000669.1:g.92124000_92124002del	GRCh37
NC_000007.12:g.91961936_91961938del	NCBI36
NG_008341.1:g.38844_38846del
NG_008341.2:g.38844_38846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-59_2784-57del MANE Select	ENSP00000248633.4:n.2784-59_2784-57del
ENST00000248633.8:c.2784-59_2784-57del	ENSP00000248633.4:n.2784-59_2784-57del
ENST00000428214.5:c.2613-59_2613-57del	ENSP00000394413.1:n.2613-59_2613-57del
ENST00000438045.5:c.1818-59_1818-57del	ENSP00000410438.1:n.1818-59_1818-57del
ENST00000484913.5:n.2823-59_2823-57del
ENST00000496420.5:n.2676-59_2676-57del
NM_000466.2:c.2784-59_2784-57del	NP_000457.1:n.2784-59_2784-57del
NM_001282677.1:c.2613-59_2613-57del	NP_001269606.1:n.2613-59_2613-57del
NM_001282678.1:c.2160-59_2160-57del	NP_001269607.1:n.2160-59_2160-57del
XM_005250433.3:c.1035-59_1035-57del	XP_005250490.1:n.1035-59_1035-57del
XR_242246.3:n.2880-59_2880-57del
XM_017012319.2:c.1035-59_1035-57del	XP_016867808.1:n.1035-59_1035-57del
XR_001744808.2:n.1811-59_1811-57del
XR_242246.5:n.2831-59_2831-57del
NM_000466.3:c.2784-59_2784-57del MANE Select	NP_000457.1:n.2784-59_2784-57del
NM_001282677.2:c.2613-59_2613-57del	NP_001269606.1:n.2613-59_2613-57del
NM_001282678.2:c.2160-59_2160-57del	NP_001269607.1:n.2160-59_2160-57del