Canonical Allele Identifier: CA2776945946

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494661_92494662del , CM000669.2:g.92494661_92494662del	GRCh38
NC_000007.13:g.92123975_92123976del , CM000669.1:g.92123975_92123976del	GRCh37
NC_000007.12:g.91961911_91961912del	NCBI36
NG_008341.1:g.38870_38871del
NG_008341.2:g.38870_38871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-33_2784-32del MANE Select	ENSP00000248633.4:n.2784-33_2784-32del
ENST00000248633.8:c.2784-33_2784-32del	ENSP00000248633.4:n.2784-33_2784-32del
ENST00000428214.5:c.2613-33_2613-32del	ENSP00000394413.1:n.2613-33_2613-32del
ENST00000438045.5:c.1818-33_1818-32del	ENSP00000410438.1:n.1818-33_1818-32del
ENST00000484913.5:n.2823-33_2823-32del
ENST00000496420.5:n.2676-33_2676-32del
NM_000466.2:c.2784-33_2784-32del	NP_000457.1:n.2784-33_2784-32del
NM_001282677.1:c.2613-33_2613-32del	NP_001269606.1:n.2613-33_2613-32del
NM_001282678.1:c.2160-33_2160-32del	NP_001269607.1:n.2160-33_2160-32del
XM_005250433.3:c.1035-33_1035-32del	XP_005250490.1:n.1035-33_1035-32del
XR_242246.3:n.2880-33_2880-32del
XM_017012319.2:c.1035-33_1035-32del	XP_016867808.1:n.1035-33_1035-32del
XR_001744808.2:n.1811-33_1811-32del
XR_242246.5:n.2831-33_2831-32del
NM_000466.3:c.2784-33_2784-32del MANE Select	NP_000457.1:n.2784-33_2784-32del
NM_001282677.2:c.2613-33_2613-32del	NP_001269606.1:n.2613-33_2613-32del
NM_001282678.2:c.2160-33_2160-32del	NP_001269607.1:n.2160-33_2160-32del