Canonical Allele Identifier: CA2683719117

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506170-AGATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506173_92506176del , CM000669.2:g.92506173_92506176del	GRCh38
NC_000007.13:g.92135487_92135490del , CM000669.1:g.92135487_92135490del	GRCh37
NC_000007.12:g.91973423_91973426del	NCBI36
NG_008341.1:g.27358_27361del
NG_008341.2:g.27358_27361del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1900+74_1900+77del MANE Select	ENSP00000248633.4:n.1900+74_1900+77del
ENST00000248633.8:c.1900+74_1900+77del	ENSP00000248633.4:n.1900+74_1900+77del
ENST00000422866.1:c.718+74_718+77del
ENST00000428214.5:c.1900+74_1900+77del	ENSP00000394413.1:n.1900+74_1900+77del
ENST00000438045.5:c.934+74_934+77del	ENSP00000410438.1:n.934+74_934+77del
ENST00000484913.5:n.1939+74_1939+77del
ENST00000496420.5:n.1576+74_1576+77del
NM_000466.2:c.1900+74_1900+77del	NP_000457.1:n.1900+74_1900+77del
NM_001282677.1:c.1900+74_1900+77del	NP_001269606.1:n.1900+74_1900+77del
NM_001282678.1:c.1276+74_1276+77del	NP_001269607.1:n.1276+74_1276+77del
XM_005250433.3:c.151+74_151+77del	XP_005250490.1:n.151+74_151+77del
XR_242246.3:n.1996+74_1996+77del
XM_017012319.2:c.151+74_151+77del	XP_016867808.1:n.151+74_151+77del
XR_001744808.2:n.927+74_927+77del
XR_242246.5:n.1947+74_1947+77del
NM_000466.3:c.1900+74_1900+77del MANE Select	NP_000457.1:n.1900+74_1900+77del
NM_001282677.2:c.1900+74_1900+77del	NP_001269606.1:n.1900+74_1900+77del
NM_001282678.2:c.1276+74_1276+77del	NP_001269607.1:n.1276+74_1276+77del