Canonical Allele Identifier: CA1725939455

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92505035_92505036delinsAC , CM000669.2:g.92505035_92505036delinsAC	GRCh38
NC_000007.13:g.92134349_92134350delinsAC , CM000669.1:g.92134349_92134350delinsAC	GRCh37
NC_000007.12:g.91972285_91972286delinsAC	NCBI36
NG_008341.1:g.28496_28497delinsGT
NG_008341.2:g.28496_28497delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-134_1901-133delinsGT MANE Select	ENSP00000248633.4:n.1901-134_1901-133delinsGT
ENST00000248633.8:c.1901-134_1901-133delinsGT	ENSP00000248633.4:n.1901-134_1901-133delinsGT
ENST00000422866.1:c.719-134_719-133delinsGT
ENST00000428214.5:c.1900+1212_1900+1213delinsGT	ENSP00000394413.1:n.1900+1212_1900+1213delinsGT
ENST00000438045.5:c.935-134_935-133delinsGT	ENSP00000410438.1:n.935-134_935-133delinsGT
ENST00000484913.5:n.1940-134_1940-133delinsGT
ENST00000496420.5:n.1577-134_1577-133delinsGT
NM_000466.2:c.1901-134_1901-133delinsGT	NP_000457.1:n.1901-134_1901-133delinsGT
NM_001282677.1:c.1900+1212_1900+1213delinsGT	NP_001269606.1:n.1900+1212_1900+1213delinsGT
NM_001282678.1:c.1277-134_1277-133delinsGT	NP_001269607.1:n.1277-134_1277-133delinsGT
XM_005250433.3:c.152-134_152-133delinsGT	XP_005250490.1:n.152-134_152-133delinsGT
XR_242246.3:n.1997-134_1997-133delinsGT
XM_017012319.2:c.152-134_152-133delinsGT	XP_016867808.1:n.152-134_152-133delinsGT
XR_001744808.2:n.928-134_928-133delinsGT
XR_242246.5:n.1948-134_1948-133delinsGT
NM_000466.3:c.1901-134_1901-133delinsGT MANE Select	NP_000457.1:n.1901-134_1901-133delinsGT
NM_001282677.2:c.1900+1212_1900+1213delinsGT	NP_001269606.1:n.1900+1212_1900+1213delinsGT
NM_001282678.2:c.1277-134_1277-133delinsGT	NP_001269607.1:n.1277-134_1277-133delinsGT