Canonical Allele Identifier: CA1725938599

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504655_92504658delinsGAGT , CM000669.2:g.92504655_92504658delinsGAGT	GRCh38
NC_000007.13:g.92133969_92133972delinsGAGT , CM000669.1:g.92133969_92133972delinsGAGT	GRCh37
NC_000007.12:g.91971905_91971908delinsGAGT	NCBI36
NG_008341.1:g.28874_28877delinsACTC
NG_008341.2:g.28874_28877delinsACTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+74_2071+77delinsACTC MANE Select	ENSP00000248633.4:n.2071+74_2071+77delins...
ENST00000248633.8:c.2071+74_2071+77delinsACTC	ENSP00000248633.4:n.2071+74_2071+77delins...
ENST00000428214.5:c.1901-1463_1901-1460delinsACTC	ENSP00000394413.1:n.1901-1463_1901-1460de...
ENST00000438045.5:c.1105+74_1105+77delinsACTC	ENSP00000410438.1:n.1105+74_1105+77delins...
ENST00000484913.5:n.2110+74_2110+77delinsACTC
ENST00000496420.5:n.1747+74_1747+77delinsACTC
NM_000466.2:c.2071+74_2071+77delinsACTC	NP_000457.1:n.2071+74_2071+77delinsACTC
NM_001282677.1:c.1901-1463_1901-1460delinsACTC	NP_001269606.1:n.1901-1463_1901-1460delin...
NM_001282678.1:c.1447+74_1447+77delinsACTC	NP_001269607.1:n.1447+74_1447+77delinsACT...
XM_005250433.3:c.322+74_322+77delinsACTC	XP_005250490.1:n.322+74_322+77delinsACTC
XR_242246.3:n.2167+74_2167+77delinsACTC
XM_017012319.2:c.322+74_322+77delinsACTC	XP_016867808.1:n.322+74_322+77delinsACTC
XR_001744808.2:n.1098+74_1098+77delinsACTC
XR_242246.5:n.2118+74_2118+77delinsACTC
NM_000466.3:c.2071+74_2071+77delinsACTC MANE Select	NP_000457.1:n.2071+74_2071+77delinsACTC
NM_001282677.2:c.1901-1463_1901-1460delinsACTC	NP_001269606.1:n.1901-1463_1901-1460delin...
NM_001282678.2:c.1447+74_1447+77delinsACTC	NP_001269607.1:n.1447+74_1447+77delinsACT...