Canonical Allele Identifier: CA576706630

Gene: PEX1

Linked Data

• dbSNP Id: rs1175001340
• gnomAD v2: 7-92146671-T-TTGGCCTCCC
• MyVariant Identifiers: chr7:g.92146671_92146672insTGGCCTCCC (hg19) ; chr7:g.92517357_92517358insTGGCCTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517357_92517358insTGGCCTCCC , CM000669.2:g.92517357_92517358insTGGCCTCCC	GRCh38
NC_000007.13:g.92146671_92146672insTGGCCTCCC , CM000669.1:g.92146671_92146672insTGGCCTCCC	GRCh37
NC_000007.12:g.91984607_91984608insTGGCCTCCC	NCBI36
NG_008341.1:g.16174_16175insGGGAGGCCA
NG_008341.2:g.16174_16175insGGGAGGCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1157_1158insGGGAGGCCA MANE Select	ENSP00000248633.4:p.Val386_Val387insGlyGl...
ENST00000248633.8:c.1157_1158insGGGAGGCCA	ENSP00000248633.4:p.Val386_Val387insGlyGl...
ENST00000422866.1:c.58_59insGGGAGGCCA
ENST00000428214.5:c.1157_1158insGGGAGGCCA	ENSP00000394413.1:p.Val386_Val387insGlyGl...
ENST00000438045.5:c.274-3391_274-3390insGGGAGGCCA	ENSP00000410438.1:n.274-3391_274-3390insG...
ENST00000484913.5:n.1196_1197insGGGAGGCCA
NM_000466.2:c.1157_1158insGGGAGGCCA	NP_000457.1:p.Val386_Val387insGlyGlyGln
NM_001282677.1:c.1157_1158insGGGAGGCCA	NP_001269606.1:p.Val386_Val387insGlyGlyGl...
NM_001282678.1:c.533_534insGGGAGGCCA	NP_001269607.1:p.Val178_Val179insGlyGlyGl...
XR_242246.3:n.1253_1254insGGGAGGCCA
XM_017012319.2:c.-510_-509insGGGAGGCCA	XP_016867808.1:n.-510_-509insGGGAGGCCA
XR_001744808.2:n.267_268insGGGAGGCCA
XR_242246.5:n.1204_1205insGGGAGGCCA
NM_000466.3:c.1157_1158insGGGAGGCCA MANE Select	NP_000457.1:p.Val386_Val387insGlyGlyGln
NM_001282677.2:c.1157_1158insGGGAGGCCA	NP_001269606.1:p.Val386_Val387insGlyGlyGl...
NM_001282678.2:c.533_534insGGGAGGCCA	NP_001269607.1:p.Val178_Val179insGlyGlyGl...