Canonical Allele Identifier: CA2683719004

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506105-A-AAAGTCTTAAAATTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506108_92506109insTCTTAAAATTTCTAAG , CM000669.2:g.92506108_92506109insTCTTAAAATTTCTAAG	GRCh38
NC_000007.13:g.92135422_92135423insTCTTAAAATTTCTAAG , CM000669.1:g.92135422_92135423insTCTTAAAATTTCTAAG	GRCh37
NC_000007.12:g.91973358_91973359insTCTTAAAATTTCTAAG	NCBI36
NG_008341.1:g.27426_27427insAGAAATTTTAAGACTT
NG_008341.2:g.27426_27427insAGAAATTTTAAGACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+142_1900+143insAGAAATTTTAAGACTT MANE Select	ENSP00000248633.4:n.1900+142_1900+143insAGAAATTTTAAGACTT
ENST00000248633.8:c.1900+142_1900+143insAGAAATTTTAAGACTT	ENSP00000248633.4:n.1900+142_1900+143insAGAAATTTTAAGACTT
ENST00000422866.1:c.718+142_718+143insAGAAATTTTAAGACTT
ENST00000428214.5:c.1900+142_1900+143insAGAAATTTTAAGACTT	ENSP00000394413.1:n.1900+142_1900+143insAGAAATTTTAAGACTT
ENST00000438045.5:c.934+142_934+143insAGAAATTTTAAGACTT	ENSP00000410438.1:n.934+142_934+143insAGAAATTTTAAGACTT
ENST00000484913.5:n.1939+142_1939+143insAGAAATTTTAAGACTT
ENST00000496420.5:n.1576+142_1576+143insAGAAATTTTAAGACTT
NM_000466.2:c.1900+142_1900+143insAGAAATTTTAAGACTT	NP_000457.1:n.1900+142_1900+143insAGAAATTTTAAGACTT
NM_001282677.1:c.1900+142_1900+143insAGAAATTTTAAGACTT	NP_001269606.1:n.1900+142_1900+143insAGAAATTTTAAGACTT
NM_001282678.1:c.1276+142_1276+143insAGAAATTTTAAGACTT	NP_001269607.1:n.1276+142_1276+143insAGAAATTTTAAGACTT
XM_005250433.3:c.151+142_151+143insAGAAATTTTAAGACTT	XP_005250490.1:n.151+142_151+143insAGAAATTTTAAGACTT
XR_242246.3:n.1996+142_1996+143insAGAAATTTTAAGACTT
XM_017012319.2:c.151+142_151+143insAGAAATTTTAAGACTT	XP_016867808.1:n.151+142_151+143insAGAAATTTTAAGACTT
XR_001744808.2:n.927+142_927+143insAGAAATTTTAAGACTT
XR_242246.5:n.1947+142_1947+143insAGAAATTTTAAGACTT
NM_000466.3:c.1900+142_1900+143insAGAAATTTTAAGACTT MANE Select	NP_000457.1:n.1900+142_1900+143insAGAAATTTTAAGACTT
NM_001282677.2:c.1900+142_1900+143insAGAAATTTTAAGACTT	NP_001269606.1:n.1900+142_1900+143insAGAAATTTTAAGACTT
NM_001282678.2:c.1276+142_1276+143insAGAAATTTTAAGACTT	NP_001269607.1:n.1276+142_1276+143insAGAAATTTTAAGACTT