Canonical Allele Identifier: CA1725933485

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496834_92496835delinsGT , CM000669.2:g.92496834_92496835delinsGT	GRCh38
NC_000007.13:g.92126148_92126149delinsGT , CM000669.1:g.92126148_92126149delinsGT	GRCh37
NC_000007.12:g.91964084_91964085delinsGT	NCBI36
NG_008341.1:g.36697_36698delinsAC
NG_008341.2:g.36697_36698delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-58_2719-57delinsAC MANE Select	ENSP00000248633.4:n.2719-58_2719-57delinsAC
ENST00000248633.8:c.2719-58_2719-57delinsAC	ENSP00000248633.4:n.2719-58_2719-57delinsAC
ENST00000428214.5:c.2548-58_2548-57delinsAC	ENSP00000394413.1:n.2548-58_2548-57delinsAC
ENST00000438045.5:c.1753-58_1753-57delinsAC	ENSP00000410438.1:n.1753-58_1753-57delinsAC
ENST00000484913.5:n.2758-58_2758-57delinsAC
ENST00000496420.5:n.2611-58_2611-57delinsAC
NM_000466.2:c.2719-58_2719-57delinsAC	NP_000457.1:n.2719-58_2719-57delinsAC
NM_001282677.1:c.2548-58_2548-57delinsAC	NP_001269606.1:n.2548-58_2548-57delinsAC
NM_001282678.1:c.2095-58_2095-57delinsAC	NP_001269607.1:n.2095-58_2095-57delinsAC
XM_005250433.3:c.970-58_970-57delinsAC	XP_005250490.1:n.970-58_970-57delinsAC
XR_242246.3:n.2815-58_2815-57delinsAC
XM_017012319.2:c.970-58_970-57delinsAC	XP_016867808.1:n.970-58_970-57delinsAC
XR_001744808.2:n.1746-58_1746-57delinsAC
XR_242246.5:n.2766-58_2766-57delinsAC
NM_000466.3:c.2719-58_2719-57delinsAC MANE Select	NP_000457.1:n.2719-58_2719-57delinsAC
NM_001282677.2:c.2548-58_2548-57delinsAC	NP_001269606.1:n.2548-58_2548-57delinsAC
NM_001282678.2:c.2095-58_2095-57delinsAC	NP_001269607.1:n.2095-58_2095-57delinsAC