Canonical Allele Identifier: CA1725936821

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502936_92502937delinsTC , CM000669.2:g.92502936_92502937delinsTC	GRCh38
NC_000007.13:g.92132250_92132251delinsTC , CM000669.1:g.92132250_92132251delinsTC	GRCh37
NC_000007.12:g.91970186_91970187delinsTC	NCBI36
NG_008341.1:g.30595_30596delinsGA
NG_008341.2:g.30595_30596delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2226+104_2226+105delinsGA MANE Select	ENSP00000248633.4:n.2226+104_2226+105delinsGA
ENST00000248633.8:c.2226+104_2226+105delinsGA	ENSP00000248633.4:n.2226+104_2226+105delinsGA
ENST00000428214.5:c.2055+104_2055+105delinsGA	ENSP00000394413.1:n.2055+104_2055+105delinsGA
ENST00000438045.5:c.1260+104_1260+105delinsGA	ENSP00000410438.1:n.1260+104_1260+105delinsGA
ENST00000484913.5:n.2265+104_2265+105delinsGA
ENST00000496092.1:n.24+104_24+105delinsGA
ENST00000496420.5:n.1902+104_1902+105delinsGA
NM_000466.2:c.2226+104_2226+105delinsGA	NP_000457.1:n.2226+104_2226+105delinsGA
NM_001282677.1:c.2055+104_2055+105delinsGA	NP_001269606.1:n.2055+104_2055+105delinsGA
NM_001282678.1:c.1602+104_1602+105delinsGA	NP_001269607.1:n.1602+104_1602+105delinsGA
XM_005250433.3:c.477+104_477+105delinsGA	XP_005250490.1:n.477+104_477+105delinsGA
XR_242246.3:n.2322+104_2322+105delinsGA
XM_017012319.2:c.477+104_477+105delinsGA	XP_016867808.1:n.477+104_477+105delinsGA
XR_001744808.2:n.1253+104_1253+105delinsGA
XR_242246.5:n.2273+104_2273+105delinsGA
NM_000466.3:c.2226+104_2226+105delinsGA MANE Select	NP_000457.1:n.2226+104_2226+105delinsGA
NM_001282677.2:c.2055+104_2055+105delinsGA	NP_001269606.1:n.2055+104_2055+105delinsGA
NM_001282678.2:c.1602+104_1602+105delinsGA	NP_001269607.1:n.1602+104_1602+105delinsGA