Canonical Allele Identifier: CA2683719103

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506153-T-TAAATCTAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506153_92506154insAAATCTAATA , CM000669.2:g.92506153_92506154insAAATCTAATA	GRCh38
NC_000007.13:g.92135467_92135468insAAATCTAATA , CM000669.1:g.92135467_92135468insAAATCTAATA	GRCh37
NC_000007.12:g.91973403_91973404insAAATCTAATA	NCBI36
NG_008341.1:g.27378_27379insTATTAGATTT
NG_008341.2:g.27378_27379insTATTAGATTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1900+94_1900+95insTATTAGATTT MANE Select	ENSP00000248633.4:n.1900+94_1900+95insTAT...
ENST00000248633.8:c.1900+94_1900+95insTATTAGATTT	ENSP00000248633.4:n.1900+94_1900+95insTAT...
ENST00000422866.1:c.718+94_718+95insTATTAGATTT
ENST00000428214.5:c.1900+94_1900+95insTATTAGATTT	ENSP00000394413.1:n.1900+94_1900+95insTAT...
ENST00000438045.5:c.934+94_934+95insTATTAGATTT	ENSP00000410438.1:n.934+94_934+95insTATTA...
ENST00000484913.5:n.1939+94_1939+95insTATTAGATTT
ENST00000496420.5:n.1576+94_1576+95insTATTAGATTT
NM_000466.2:c.1900+94_1900+95insTATTAGATTT	NP_000457.1:n.1900+94_1900+95insTATTAGATT...
NM_001282677.1:c.1900+94_1900+95insTATTAGATTT	NP_001269606.1:n.1900+94_1900+95insTATTAG...
NM_001282678.1:c.1276+94_1276+95insTATTAGATTT	NP_001269607.1:n.1276+94_1276+95insTATTAG...
XM_005250433.3:c.151+94_151+95insTATTAGATTT	XP_005250490.1:n.151+94_151+95insTATTAGAT...
XR_242246.3:n.1996+94_1996+95insTATTAGATTT
XM_017012319.2:c.151+94_151+95insTATTAGATTT	XP_016867808.1:n.151+94_151+95insTATTAGAT...
XR_001744808.2:n.927+94_927+95insTATTAGATTT
XR_242246.5:n.1947+94_1947+95insTATTAGATTT
NM_000466.3:c.1900+94_1900+95insTATTAGATTT MANE Select	NP_000457.1:n.1900+94_1900+95insTATTAGATT...
NM_001282677.2:c.1900+94_1900+95insTATTAGATTT	NP_001269606.1:n.1900+94_1900+95insTATTAG...
NM_001282678.2:c.1276+94_1276+95insTATTAGATTT	NP_001269607.1:n.1276+94_1276+95insTATTAG...