Canonical Allele Identifier: CA2549903067

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494912_92494913insAC , CM000669.2:g.92494912_92494913insAC	GRCh38
NC_000007.13:g.92124226_92124227insAC , CM000669.1:g.92124226_92124227insAC	GRCh37
NC_000007.12:g.91962162_91962163insAC	NCBI36
NG_008341.1:g.38619_38620insGT
NG_008341.2:g.38619_38620insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-284_2784-283insGT MANE Select	ENSP00000248633.4:n.2784-284_2784-283insGT
ENST00000248633.8:c.2784-284_2784-283insGT	ENSP00000248633.4:n.2784-284_2784-283insGT
ENST00000428214.5:c.2613-284_2613-283insGT	ENSP00000394413.1:n.2613-284_2613-283insGT
ENST00000438045.5:c.1818-284_1818-283insGT	ENSP00000410438.1:n.1818-284_1818-283insGT
ENST00000484913.5:n.2823-284_2823-283insGT
ENST00000496420.5:n.2676-284_2676-283insGT
NM_000466.2:c.2784-284_2784-283insGT	NP_000457.1:n.2784-284_2784-283insGT
NM_001282677.1:c.2613-284_2613-283insGT	NP_001269606.1:n.2613-284_2613-283insGT
NM_001282678.1:c.2160-284_2160-283insGT	NP_001269607.1:n.2160-284_2160-283insGT
XM_005250433.3:c.1035-284_1035-283insGT	XP_005250490.1:n.1035-284_1035-283insGT
XR_242246.3:n.2880-284_2880-283insGT
XM_017012319.2:c.1035-284_1035-283insGT	XP_016867808.1:n.1035-284_1035-283insGT
XR_001744808.2:n.1811-284_1811-283insGT
XR_242246.5:n.2831-284_2831-283insGT
NM_000466.3:c.2784-284_2784-283insGT MANE Select	NP_000457.1:n.2784-284_2784-283insGT
NM_001282677.2:c.2613-284_2613-283insGT	NP_001269606.1:n.2613-284_2613-283insGT
NM_001282678.2:c.2160-284_2160-283insGT	NP_001269607.1:n.2160-284_2160-283insGT