Canonical Allele Identifier: CA576706616

Gene: PEX1

Linked Data

• dbSNP Id: rs1460194011
• gnomAD v2: 7-92146824-T-TAGCTTTCC
• gnomAD v3: 7-92517510-T-TAGCTTTCC
• gnomAD v4: 7-92517510-T-TAGCTTTCC
• MyVariant Identifiers: chr7:g.92146824_92146825insAGCTTTCC (hg19) ; chr7:g.92517510_92517511insAGCTTTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517512_92517519dup , CM000669.2:g.92517512_92517519dup	GRCh38
NC_000007.13:g.92146826_92146833dup , CM000669.1:g.92146826_92146833dup	GRCh37
NC_000007.12:g.91984762_91984769dup	NCBI36
NG_008341.1:g.16014_16021dup
NG_008341.2:g.16014_16021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.997_1004dup MANE Select	ENSP00000248633.4:p.Val336GlufsTer3
ENST00000248633.8:c.997_1004dup	ENSP00000248633.4:p.Val336GlufsTer3
ENST00000428214.5:c.997_1004dup	ENSP00000394413.1:p.Val336GlufsTer3
ENST00000438045.5:c.274-3551_274-3544dup	ENSP00000410438.1:n.274-3551_274-3544dup
ENST00000484913.5:n.1036_1043dup
NM_000466.2:c.997_1004dup	NP_000457.1:p.Val336GlufsTer3
NM_001282677.1:c.997_1004dup	NP_001269606.1:p.Val336GlufsTer3
NM_001282678.1:c.373_380dup	NP_001269607.1:p.Val128GlufsTer3
XR_242246.3:n.1093_1100dup
XM_017012319.2:c.-670_-663dup	XP_016867808.1:n.-670_-663dup
XR_001744808.2:n.107_114dup
XR_242246.5:n.1044_1051dup
NM_000466.3:c.997_1004dup MANE Select	NP_000457.1:p.Val336GlufsTer3
NM_001282677.2:c.997_1004dup	NP_001269606.1:p.Val336GlufsTer3
NM_001282678.2:c.373_380dup	NP_001269607.1:p.Val128GlufsTer3