Canonical Allele Identifier: CA2683719058

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506114-T-TCTAAGAAATTC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506114_92506115insCTAAGAAATTC , CM000669.2:g.92506114_92506115insCTAAGAAATTC	GRCh38
NC_000007.13:g.92135428_92135429insCTAAGAAATTC , CM000669.1:g.92135428_92135429insCTAAGAAATTC	GRCh37
NC_000007.12:g.91973364_91973365insCTAAGAAATTC	NCBI36
NG_008341.1:g.27417_27418insGAATTTCTTAG
NG_008341.2:g.27417_27418insGAATTTCTTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1900+133_1900+134insGAATTTCTTAG MANE Select	ENSP00000248633.4:n.1900+133_1900+134insGAATTTCTTAG
ENST00000248633.8:c.1900+133_1900+134insGAATTTCTTAG	ENSP00000248633.4:n.1900+133_1900+134insGAATTTCTTAG
ENST00000422866.1:c.718+133_718+134insGAATTTCTTAG
ENST00000428214.5:c.1900+133_1900+134insGAATTTCTTAG	ENSP00000394413.1:n.1900+133_1900+134insGAATTTCTTAG
ENST00000438045.5:c.934+133_934+134insGAATTTCTTAG	ENSP00000410438.1:n.934+133_934+134insGAATTTCTTAG
ENST00000484913.5:n.1939+133_1939+134insGAATTTCTTAG
ENST00000496420.5:n.1576+133_1576+134insGAATTTCTTAG
NM_000466.2:c.1900+133_1900+134insGAATTTCTTAG	NP_000457.1:n.1900+133_1900+134insGAATTTCTTAG
NM_001282677.1:c.1900+133_1900+134insGAATTTCTTAG	NP_001269606.1:n.1900+133_1900+134insGAATTTCTTAG
NM_001282678.1:c.1276+133_1276+134insGAATTTCTTAG	NP_001269607.1:n.1276+133_1276+134insGAATTTCTTAG
XM_005250433.3:c.151+133_151+134insGAATTTCTTAG	XP_005250490.1:n.151+133_151+134insGAATTTCTTAG
XR_242246.3:n.1996+133_1996+134insGAATTTCTTAG
XM_017012319.2:c.151+133_151+134insGAATTTCTTAG	XP_016867808.1:n.151+133_151+134insGAATTTCTTAG
XR_001744808.2:n.927+133_927+134insGAATTTCTTAG
XR_242246.5:n.1947+133_1947+134insGAATTTCTTAG
NM_000466.3:c.1900+133_1900+134insGAATTTCTTAG MANE Select	NP_000457.1:n.1900+133_1900+134insGAATTTCTTAG
NM_001282677.2:c.1900+133_1900+134insGAATTTCTTAG	NP_001269606.1:n.1900+133_1900+134insGAATTTCTTAG
NM_001282678.2:c.1276+133_1276+134insGAATTTCTTAG	NP_001269607.1:n.1276+133_1276+134insGAATTTCTTAG