Canonical Allele Identifier: CA2776945970

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494679_92494694del , CM000669.2:g.92494679_92494694del	GRCh38
NC_000007.13:g.92123993_92124008del , CM000669.1:g.92123993_92124008del	GRCh37
NC_000007.12:g.91961929_91961944del	NCBI36
NG_008341.1:g.38838_38853del
NG_008341.2:g.38838_38853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-65_2784-50del MANE Select	ENSP00000248633.4:n.2784-65_2784-50del
ENST00000248633.8:c.2784-65_2784-50del	ENSP00000248633.4:n.2784-65_2784-50del
ENST00000428214.5:c.2613-65_2613-50del	ENSP00000394413.1:n.2613-65_2613-50del
ENST00000438045.5:c.1818-65_1818-50del	ENSP00000410438.1:n.1818-65_1818-50del
ENST00000484913.5:n.2823-65_2823-50del
ENST00000496420.5:n.2676-65_2676-50del
NM_000466.2:c.2784-65_2784-50del	NP_000457.1:n.2784-65_2784-50del
NM_001282677.1:c.2613-65_2613-50del	NP_001269606.1:n.2613-65_2613-50del
NM_001282678.1:c.2160-65_2160-50del	NP_001269607.1:n.2160-65_2160-50del
XM_005250433.3:c.1035-65_1035-50del	XP_005250490.1:n.1035-65_1035-50del
XR_242246.3:n.2880-65_2880-50del
XM_017012319.2:c.1035-65_1035-50del	XP_016867808.1:n.1035-65_1035-50del
XR_001744808.2:n.1811-65_1811-50del
XR_242246.5:n.2831-65_2831-50del
NM_000466.3:c.2784-65_2784-50del MANE Select	NP_000457.1:n.2784-65_2784-50del
NM_001282677.2:c.2613-65_2613-50del	NP_001269606.1:n.2613-65_2613-50del
NM_001282678.2:c.2160-65_2160-50del	NP_001269607.1:n.2160-65_2160-50del