Canonical Allele Identifier: CA1725933242

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496665_92496668delinsAAAT , CM000669.2:g.92496665_92496668delinsAAAT	GRCh38
NC_000007.13:g.92125979_92125982delinsAAAT , CM000669.1:g.92125979_92125982delinsAAAT	GRCh37
NC_000007.12:g.91963915_91963918delinsAAAT	NCBI36
NG_008341.1:g.36864_36867delinsATTT
NG_008341.2:g.36864_36867delinsATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+45_2783+48delinsATTT MANE Select	ENSP00000248633.4:n.2783+45_2783+48delinsATTT
ENST00000248633.8:c.2783+45_2783+48delinsATTT	ENSP00000248633.4:n.2783+45_2783+48delinsATTT
ENST00000428214.5:c.2612+45_2612+48delinsATTT	ENSP00000394413.1:n.2612+45_2612+48delinsATTT
ENST00000438045.5:c.1817+45_1817+48delinsATTT	ENSP00000410438.1:n.1817+45_1817+48delinsATTT
ENST00000484913.5:n.2822+45_2822+48delinsATTT
ENST00000496420.5:n.2675+45_2675+48delinsATTT
NM_000466.2:c.2783+45_2783+48delinsATTT	NP_000457.1:n.2783+45_2783+48delinsATTT
NM_001282677.1:c.2612+45_2612+48delinsATTT	NP_001269606.1:n.2612+45_2612+48delinsATTT
NM_001282678.1:c.2159+45_2159+48delinsATTT	NP_001269607.1:n.2159+45_2159+48delinsATTT
XM_005250433.3:c.1034+45_1034+48delinsATTT	XP_005250490.1:n.1034+45_1034+48delinsATTT
XR_242246.3:n.2879+45_2879+48delinsATTT
XM_017012319.2:c.1034+45_1034+48delinsATTT	XP_016867808.1:n.1034+45_1034+48delinsATTT
XR_001744808.2:n.1810+45_1810+48delinsATTT
XR_242246.5:n.2830+45_2830+48delinsATTT
NM_000466.3:c.2783+45_2783+48delinsATTT MANE Select	NP_000457.1:n.2783+45_2783+48delinsATTT
NM_001282677.2:c.2612+45_2612+48delinsATTT	NP_001269606.1:n.2612+45_2612+48delinsATTT
NM_001282678.2:c.2159+45_2159+48delinsATTT	NP_001269607.1:n.2159+45_2159+48delinsATTT