Canonical Allele Identifier: CA1104469376

Gene: PEX1

Linked Data

• dbSNP Id: rs1792174868
• gnomAD v3: 7-92506109-A-ACTT
• gnomAD v4: 7-92506109-A-ACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506109_92506110insCTT , CM000669.2:g.92506109_92506110insCTT	GRCh38
NC_000007.13:g.92135423_92135424insCTT , CM000669.1:g.92135423_92135424insCTT	GRCh37
NC_000007.12:g.91973359_91973360insCTT	NCBI36
NG_008341.1:g.27422_27423insAAG
NG_008341.2:g.27422_27423insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+138_1900+139insAAG MANE Select	ENSP00000248633.4:n.1900+138_1900+139insAAG
ENST00000248633.8:c.1900+138_1900+139insAAG	ENSP00000248633.4:n.1900+138_1900+139insAAG
ENST00000422866.1:c.718+138_718+139insAAG
ENST00000428214.5:c.1900+138_1900+139insAAG	ENSP00000394413.1:n.1900+138_1900+139insAAG
ENST00000438045.5:c.934+138_934+139insAAG	ENSP00000410438.1:n.934+138_934+139insAAG
ENST00000484913.5:n.1939+138_1939+139insAAG
ENST00000496420.5:n.1576+138_1576+139insAAG
NM_000466.2:c.1900+138_1900+139insAAG	NP_000457.1:n.1900+138_1900+139insAAG
NM_001282677.1:c.1900+138_1900+139insAAG	NP_001269606.1:n.1900+138_1900+139insAAG
NM_001282678.1:c.1276+138_1276+139insAAG	NP_001269607.1:n.1276+138_1276+139insAAG
XM_005250433.3:c.151+138_151+139insAAG	XP_005250490.1:n.151+138_151+139insAAG
XR_242246.3:n.1996+138_1996+139insAAG
XM_017012319.2:c.151+138_151+139insAAG	XP_016867808.1:n.151+138_151+139insAAG
XR_001744808.2:n.927+138_927+139insAAG
XR_242246.5:n.1947+138_1947+139insAAG
NM_000466.3:c.1900+138_1900+139insAAG MANE Select	NP_000457.1:n.1900+138_1900+139insAAG
NM_001282677.2:c.1900+138_1900+139insAAG	NP_001269606.1:n.1900+138_1900+139insAAG
NM_001282678.2:c.1276+138_1276+139insAAG	NP_001269607.1:n.1276+138_1276+139insAAG