Canonical Allele Identifier: CA2776945957

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494668_92494669insAGTC , CM000669.2:g.92494668_92494669insAGTC	GRCh38
NC_000007.13:g.92123982_92123983insAGTC , CM000669.1:g.92123982_92123983insAGTC	GRCh37
NC_000007.12:g.91961918_91961919insAGTC	NCBI36
NG_008341.1:g.38863_38864insGACT
NG_008341.2:g.38863_38864insGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-40_2784-39insGACT MANE Select	ENSP00000248633.4:n.2784-40_2784-39insGACT
ENST00000248633.8:c.2784-40_2784-39insGACT	ENSP00000248633.4:n.2784-40_2784-39insGACT
ENST00000428214.5:c.2613-40_2613-39insGACT	ENSP00000394413.1:n.2613-40_2613-39insGACT
ENST00000438045.5:c.1818-40_1818-39insGACT	ENSP00000410438.1:n.1818-40_1818-39insGACT
ENST00000484913.5:n.2823-40_2823-39insGACT
ENST00000496420.5:n.2676-40_2676-39insGACT
NM_000466.2:c.2784-40_2784-39insGACT	NP_000457.1:n.2784-40_2784-39insGACT
NM_001282677.1:c.2613-40_2613-39insGACT	NP_001269606.1:n.2613-40_2613-39insGACT
NM_001282678.1:c.2160-40_2160-39insGACT	NP_001269607.1:n.2160-40_2160-39insGACT
XM_005250433.3:c.1035-40_1035-39insGACT	XP_005250490.1:n.1035-40_1035-39insGACT
XR_242246.3:n.2880-40_2880-39insGACT
XM_017012319.2:c.1035-40_1035-39insGACT	XP_016867808.1:n.1035-40_1035-39insGACT
XR_001744808.2:n.1811-40_1811-39insGACT
XR_242246.5:n.2831-40_2831-39insGACT
NM_000466.3:c.2784-40_2784-39insGACT MANE Select	NP_000457.1:n.2784-40_2784-39insGACT
NM_001282677.2:c.2613-40_2613-39insGACT	NP_001269606.1:n.2613-40_2613-39insGACT
NM_001282678.2:c.2160-40_2160-39insGACT	NP_001269607.1:n.2160-40_2160-39insGACT