Canonical Allele Identifier: CA1725936871

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502988_92502989delinsAT , CM000669.2:g.92502988_92502989delinsAT	GRCh38
NC_000007.13:g.92132302_92132303delinsAT , CM000669.1:g.92132302_92132303delinsAT	GRCh37
NC_000007.12:g.91970238_91970239delinsAT	NCBI36
NG_008341.1:g.30543_30544delinsAT
NG_008341.2:g.30543_30544delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2226+52_2226+53delinsAT MANE Select	ENSP00000248633.4:n.2226+52_2226+53delins...
ENST00000248633.8:c.2226+52_2226+53delinsAT	ENSP00000248633.4:n.2226+52_2226+53delins...
ENST00000428214.5:c.2055+52_2055+53delinsAT	ENSP00000394413.1:n.2055+52_2055+53delins...
ENST00000438045.5:c.1260+52_1260+53delinsAT	ENSP00000410438.1:n.1260+52_1260+53delins...
ENST00000484913.5:n.2265+52_2265+53delinsAT
ENST00000496092.1:n.24+52_24+53delinsAT
ENST00000496420.5:n.1902+52_1902+53delinsAT
NM_000466.2:c.2226+52_2226+53delinsAT	NP_000457.1:n.2226+52_2226+53delinsAT
NM_001282677.1:c.2055+52_2055+53delinsAT	NP_001269606.1:n.2055+52_2055+53delinsAT
NM_001282678.1:c.1602+52_1602+53delinsAT	NP_001269607.1:n.1602+52_1602+53delinsAT
XM_005250433.3:c.477+52_477+53delinsAT	XP_005250490.1:n.477+52_477+53delinsAT
XR_242246.3:n.2322+52_2322+53delinsAT
XM_017012319.2:c.477+52_477+53delinsAT	XP_016867808.1:n.477+52_477+53delinsAT
XR_001744808.2:n.1253+52_1253+53delinsAT
XR_242246.5:n.2273+52_2273+53delinsAT
NM_000466.3:c.2226+52_2226+53delinsAT MANE Select	NP_000457.1:n.2226+52_2226+53delinsAT
NM_001282677.2:c.2055+52_2055+53delinsAT	NP_001269606.1:n.2055+52_2055+53delinsAT
NM_001282678.2:c.1602+52_1602+53delinsAT	NP_001269607.1:n.1602+52_1602+53delinsAT