Canonical Allele Identifier: CA576706631

Gene: PEX1

Linked Data

• dbSNP Id: rs1377831514
• gnomAD v2: 7-92146672-A-AAAGTG
• MyVariant Identifiers: chr7:g.92146672_92146673insAAGTG (hg19) ; chr7:g.92517358_92517359insAAGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517358_92517359insAAGTG , CM000669.2:g.92517358_92517359insAAGTG	GRCh38
NC_000007.13:g.92146672_92146673insAAGTG , CM000669.1:g.92146672_92146673insAAGTG	GRCh37
NC_000007.12:g.91984608_91984609insAAGTG	NCBI36
NG_008341.1:g.16173_16174insCACTT
NG_008341.2:g.16173_16174insCACTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1156_1157insCACTT MANE Select	ENSP00000248633.4:p.Val386AlafsTer3
ENST00000248633.8:c.1156_1157insCACTT	ENSP00000248633.4:p.Val386AlafsTer3
ENST00000422866.1:c.57_58insCACTT
ENST00000428214.5:c.1156_1157insCACTT	ENSP00000394413.1:p.Val386AlafsTer3
ENST00000438045.5:c.274-3392_274-3391insCACTT	ENSP00000410438.1:n.274-3392_274-3391insC...
ENST00000484913.5:n.1195_1196insCACTT
NM_000466.2:c.1156_1157insCACTT	NP_000457.1:p.Val386AlafsTer3
NM_001282677.1:c.1156_1157insCACTT	NP_001269606.1:p.Val386AlafsTer3
NM_001282678.1:c.532_533insCACTT	NP_001269607.1:p.Val178AlafsTer3
XR_242246.3:n.1252_1253insCACTT
XM_017012319.2:c.-511_-510insCACTT	XP_016867808.1:n.-511_-510insCACTT
XR_001744808.2:n.266_267insCACTT
XR_242246.5:n.1203_1204insCACTT
NM_000466.3:c.1156_1157insCACTT MANE Select	NP_000457.1:p.Val386AlafsTer3
NM_001282677.2:c.1156_1157insCACTT	NP_001269606.1:p.Val386AlafsTer3
NM_001282678.2:c.532_533insCACTT	NP_001269607.1:p.Val178AlafsTer3