Canonical Allele Identifier: CA161965435

Gene: PEX1

Linked Data

• dbSNP Id: rs34429355
• MyVariant Identifiers: chr7:g.92135420_92135421insAAGACTTAAAATTTCT (hg19) ; chr7:g.92506106_92506107insAAGACTTAAAATTTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506107_92506108insAGACTTAAAATTTCTA , CM000669.2:g.92506107_92506108insAGACTTAAAATTTCTA	GRCh38
NC_000007.13:g.92135421_92135422insAGACTTAAAATTTCTA , CM000669.1:g.92135421_92135422insAGACTTAAAATTTCTA	GRCh37
NC_000007.12:g.91973357_91973358insAGACTTAAAATTTCTA	NCBI36
NG_008341.1:g.27425_27426insAGAAATTTTAAGTCTT
NG_008341.2:g.27425_27426insAGAAATTTTAAGTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+141_1900+142insAGAAATTTTAAGTCTT MANE Select	ENSP00000248633.4:n.1900+141_1900+142insAGAAATTTTAAGTCTT
ENST00000248633.8:c.1900+141_1900+142insAGAAATTTTAAGTCTT	ENSP00000248633.4:n.1900+141_1900+142insAGAAATTTTAAGTCTT
ENST00000422866.1:c.718+141_718+142insAGAAATTTTAAGTCTT
ENST00000428214.5:c.1900+141_1900+142insAGAAATTTTAAGTCTT	ENSP00000394413.1:n.1900+141_1900+142insAGAAATTTTAAGTCTT
ENST00000438045.5:c.934+141_934+142insAGAAATTTTAAGTCTT	ENSP00000410438.1:n.934+141_934+142insAGAAATTTTAAGTCTT
ENST00000484913.5:n.1939+141_1939+142insAGAAATTTTAAGTCTT
ENST00000496420.5:n.1576+141_1576+142insAGAAATTTTAAGTCTT
NM_000466.2:c.1900+141_1900+142insAGAAATTTTAAGTCTT	NP_000457.1:n.1900+141_1900+142insAGAAATTTTAAGTCTT
NM_001282677.1:c.1900+141_1900+142insAGAAATTTTAAGTCTT	NP_001269606.1:n.1900+141_1900+142insAGAAATTTTAAGTCTT
NM_001282678.1:c.1276+141_1276+142insAGAAATTTTAAGTCTT	NP_001269607.1:n.1276+141_1276+142insAGAAATTTTAAGTCTT
XM_005250433.3:c.151+141_151+142insAGAAATTTTAAGTCTT	XP_005250490.1:n.151+141_151+142insAGAAATTTTAAGTCTT
XR_242246.3:n.1996+141_1996+142insAGAAATTTTAAGTCTT
XM_017012319.2:c.151+141_151+142insAGAAATTTTAAGTCTT	XP_016867808.1:n.151+141_151+142insAGAAATTTTAAGTCTT
XR_001744808.2:n.927+141_927+142insAGAAATTTTAAGTCTT
XR_242246.5:n.1947+141_1947+142insAGAAATTTTAAGTCTT
NM_000466.3:c.1900+141_1900+142insAGAAATTTTAAGTCTT MANE Select	NP_000457.1:n.1900+141_1900+142insAGAAATTTTAAGTCTT
NM_001282677.2:c.1900+141_1900+142insAGAAATTTTAAGTCTT	NP_001269606.1:n.1900+141_1900+142insAGAAATTTTAAGTCTT
NM_001282678.2:c.1276+141_1276+142insAGAAATTTTAAGTCTT	NP_001269607.1:n.1276+141_1276+142insAGAAATTTTAAGTCTT