Canonical Allele Identifier: CA915503527

Gene: PEX1

Linked Data

• dbSNP Id: rs1562857080
• gnomAD v2: 7-92135417-C-CGAAAGACTTAAAATTT
• gnomAD v3: 7-92506103-C-CGAAAGACTTAAAATTT
• gnomAD v4: 7-92506103-C-CGAAAGACTTAAAATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506103_92506104insGAAAGACTTAAAATTT , CM000669.2:g.92506103_92506104insGAAAGACTTAAAATTT	GRCh38
NC_000007.13:g.92135417_92135418insGAAAGACTTAAAATTT , CM000669.1:g.92135417_92135418insGAAAGACTTAAAATTT	GRCh37
NC_000007.12:g.91973353_91973354insGAAAGACTTAAAATTT	NCBI36
NG_008341.1:g.27428_27429insAAATTTTAAGTCTTTC
NG_008341.2:g.27428_27429insAAATTTTAAGTCTTTC

Transcript Alleles

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