Canonical Allele Identifier: CA1104469383

Gene: PEX1

Linked Data

• dbSNP Id: rs1792175474
• gnomAD v3: 7-92506113-T-TTCTAAGAAATG
• gnomAD v4: 7-92506113-T-TTCTAAGAAATG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506114_92506115insCTAAGAAATGT , CM000669.2:g.92506114_92506115insCTAAGAAATGT	GRCh38
NC_000007.13:g.92135428_92135429insCTAAGAAATGT , CM000669.1:g.92135428_92135429insCTAAGAAATGT	GRCh37
NC_000007.12:g.91973364_91973365insCTAAGAAATGT	NCBI36
NG_008341.1:g.27418_27419insCATTTCTTAGA
NG_008341.2:g.27418_27419insCATTTCTTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+134_1900+135insCATTTCTTAGA MANE Select	ENSP00000248633.4:n.1900+134_1900+135insCATTTCTTAGA
ENST00000248633.8:c.1900+134_1900+135insCATTTCTTAGA	ENSP00000248633.4:n.1900+134_1900+135insCATTTCTTAGA
ENST00000422866.1:c.718+134_718+135insCATTTCTTAGA
ENST00000428214.5:c.1900+134_1900+135insCATTTCTTAGA	ENSP00000394413.1:n.1900+134_1900+135insCATTTCTTAGA
ENST00000438045.5:c.934+134_934+135insCATTTCTTAGA	ENSP00000410438.1:n.934+134_934+135insCATTTCTTAGA
ENST00000484913.5:n.1939+134_1939+135insCATTTCTTAGA
ENST00000496420.5:n.1576+134_1576+135insCATTTCTTAGA
NM_000466.2:c.1900+134_1900+135insCATTTCTTAGA	NP_000457.1:n.1900+134_1900+135insCATTTCTTAGA
NM_001282677.1:c.1900+134_1900+135insCATTTCTTAGA	NP_001269606.1:n.1900+134_1900+135insCATTTCTTAGA
NM_001282678.1:c.1276+134_1276+135insCATTTCTTAGA	NP_001269607.1:n.1276+134_1276+135insCATTTCTTAGA
XM_005250433.3:c.151+134_151+135insCATTTCTTAGA	XP_005250490.1:n.151+134_151+135insCATTTCTTAGA
XR_242246.3:n.1996+134_1996+135insCATTTCTTAGA
XM_017012319.2:c.151+134_151+135insCATTTCTTAGA	XP_016867808.1:n.151+134_151+135insCATTTCTTAGA
XR_001744808.2:n.927+134_927+135insCATTTCTTAGA
XR_242246.5:n.1947+134_1947+135insCATTTCTTAGA
NM_000466.3:c.1900+134_1900+135insCATTTCTTAGA MANE Select	NP_000457.1:n.1900+134_1900+135insCATTTCTTAGA
NM_001282677.2:c.1900+134_1900+135insCATTTCTTAGA	NP_001269606.1:n.1900+134_1900+135insCATTTCTTAGA
NM_001282678.2:c.1276+134_1276+135insCATTTCTTAGA	NP_001269607.1:n.1276+134_1276+135insCATTTCTTAGA