Canonical Allele Identifier: CA1725933226

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496626_92496629delinsGTTC , CM000669.2:g.92496626_92496629delinsGTTC	GRCh38
NC_000007.13:g.92125940_92125943delinsGTTC , CM000669.1:g.92125940_92125943delinsGTTC	GRCh37
NC_000007.12:g.91963876_91963879delinsGTTC	NCBI36
NG_008341.1:g.36903_36906delinsGAAC
NG_008341.2:g.36903_36906delinsGAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2783+84_2783+87delinsGAAC MANE Select	ENSP00000248633.4:n.2783+84_2783+87delins...
ENST00000248633.8:c.2783+84_2783+87delinsGAAC	ENSP00000248633.4:n.2783+84_2783+87delins...
ENST00000428214.5:c.2612+84_2612+87delinsGAAC	ENSP00000394413.1:n.2612+84_2612+87delins...
ENST00000438045.5:c.1817+84_1817+87delinsGAAC	ENSP00000410438.1:n.1817+84_1817+87delins...
ENST00000484913.5:n.2822+84_2822+87delinsGAAC
ENST00000496420.5:n.2675+84_2675+87delinsGAAC
NM_000466.2:c.2783+84_2783+87delinsGAAC	NP_000457.1:n.2783+84_2783+87delinsGAAC
NM_001282677.1:c.2612+84_2612+87delinsGAAC	NP_001269606.1:n.2612+84_2612+87delinsGAA...
NM_001282678.1:c.2159+84_2159+87delinsGAAC	NP_001269607.1:n.2159+84_2159+87delinsGAA...
XM_005250433.3:c.1034+84_1034+87delinsGAAC	XP_005250490.1:n.1034+84_1034+87delinsGAA...
XR_242246.3:n.2879+84_2879+87delinsGAAC
XM_017012319.2:c.1034+84_1034+87delinsGAAC	XP_016867808.1:n.1034+84_1034+87delinsGAA...
XR_001744808.2:n.1810+84_1810+87delinsGAAC
XR_242246.5:n.2830+84_2830+87delinsGAAC
NM_000466.3:c.2783+84_2783+87delinsGAAC MANE Select	NP_000457.1:n.2783+84_2783+87delinsGAAC
NM_001282677.2:c.2612+84_2612+87delinsGAAC	NP_001269606.1:n.2612+84_2612+87delinsGAA...
NM_001282678.2:c.2159+84_2159+87delinsGAAC	NP_001269607.1:n.2159+84_2159+87delinsGAA...