Canonical Allele Identifier: CA1725947231

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517388_92517389delinsTC , CM000669.2:g.92517388_92517389delinsTC	GRCh38
NC_000007.13:g.92146702_92146703delinsTC , CM000669.1:g.92146702_92146703delinsTC	GRCh37
NC_000007.12:g.91984638_91984639delinsTC	NCBI36
NG_008341.1:g.16143_16144delinsGA
NG_008341.2:g.16143_16144delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1126_1127delinsGA MANE Select	ENSP00000248633.4:p.Glu376=
ENST00000248633.8:c.1126_1127delinsGA	ENSP00000248633.4:p.Glu376=
ENST00000422866.1:c.27_28delinsGA
ENST00000428214.5:c.1126_1127delinsGA	ENSP00000394413.1:p.Glu376=
ENST00000438045.5:c.274-3422_274-3421delinsGA	ENSP00000410438.1:n.274-3422_274-3421delinsGA
ENST00000484913.5:n.1165_1166delinsGA
NM_000466.2:c.1126_1127delinsGA	NP_000457.1:p.Glu376=
NM_001282677.1:c.1126_1127delinsGA	NP_001269606.1:p.Glu376=
NM_001282678.1:c.502_503delinsGA	NP_001269607.1:p.Glu168=
XR_242246.3:n.1222_1223delinsGA
XM_017012319.2:c.-541_-540delinsGA	XP_016867808.1:n.-541_-540delinsGA
XR_001744808.2:n.236_237delinsGA
XR_242246.5:n.1173_1174delinsGA
NM_000466.3:c.1126_1127delinsGA MANE Select	NP_000457.1:p.Glu376=
NM_001282677.2:c.1126_1127delinsGA	NP_001269606.1:p.Glu376=
NM_001282678.2:c.502_503delinsGA	NP_001269607.1:p.Glu168=