Canonical Allele Identifier: CA2683718979

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506103-C-CAAAAGACTTAAAATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506103_92506104insAAAAGACTTAAAATTT , CM000669.2:g.92506103_92506104insAAAAGACTTAAAATTT	GRCh38
NC_000007.13:g.92135417_92135418insAAAAGACTTAAAATTT , CM000669.1:g.92135417_92135418insAAAAGACTTAAAATTT	GRCh37
NC_000007.12:g.91973353_91973354insAAAAGACTTAAAATTT	NCBI36
NG_008341.1:g.27428_27429insAAATTTTAAGTCTTTT
NG_008341.2:g.27428_27429insAAATTTTAAGTCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+144_1900+145insAAATTTTAAGTCTTTT MANE Select	ENSP00000248633.4:n.1900+144_1900+145insAAATTTTAAGTCTTTT
ENST00000248633.8:c.1900+144_1900+145insAAATTTTAAGTCTTTT	ENSP00000248633.4:n.1900+144_1900+145insAAATTTTAAGTCTTTT
ENST00000422866.1:c.718+144_718+145insAAATTTTAAGTCTTTT
ENST00000428214.5:c.1900+144_1900+145insAAATTTTAAGTCTTTT	ENSP00000394413.1:n.1900+144_1900+145insAAATTTTAAGTCTTTT
ENST00000438045.5:c.934+144_934+145insAAATTTTAAGTCTTTT	ENSP00000410438.1:n.934+144_934+145insAAATTTTAAGTCTTTT
ENST00000484913.5:n.1939+144_1939+145insAAATTTTAAGTCTTTT
ENST00000496420.5:n.1576+144_1576+145insAAATTTTAAGTCTTTT
NM_000466.2:c.1900+144_1900+145insAAATTTTAAGTCTTTT	NP_000457.1:n.1900+144_1900+145insAAATTTTAAGTCTTTT
NM_001282677.1:c.1900+144_1900+145insAAATTTTAAGTCTTTT	NP_001269606.1:n.1900+144_1900+145insAAATTTTAAGTCTTTT
NM_001282678.1:c.1276+144_1276+145insAAATTTTAAGTCTTTT	NP_001269607.1:n.1276+144_1276+145insAAATTTTAAGTCTTTT
XM_005250433.3:c.151+144_151+145insAAATTTTAAGTCTTTT	XP_005250490.1:n.151+144_151+145insAAATTTTAAGTCTTTT
XR_242246.3:n.1996+144_1996+145insAAATTTTAAGTCTTTT
XM_017012319.2:c.151+144_151+145insAAATTTTAAGTCTTTT	XP_016867808.1:n.151+144_151+145insAAATTTTAAGTCTTTT
XR_001744808.2:n.927+144_927+145insAAATTTTAAGTCTTTT
XR_242246.5:n.1947+144_1947+145insAAATTTTAAGTCTTTT
NM_000466.3:c.1900+144_1900+145insAAATTTTAAGTCTTTT MANE Select	NP_000457.1:n.1900+144_1900+145insAAATTTTAAGTCTTTT
NM_001282677.2:c.1900+144_1900+145insAAATTTTAAGTCTTTT	NP_001269606.1:n.1900+144_1900+145insAAATTTTAAGTCTTTT
NM_001282678.2:c.1276+144_1276+145insAAATTTTAAGTCTTTT	NP_001269607.1:n.1276+144_1276+145insAAATTTTAAGTCTTTT