Canonical Allele Identifier: CA576706629

Gene: PEX1

Linked Data

• dbSNP Id: rs1382491833
• gnomAD v2: 7-92146667-A-ACCT
• MyVariant Identifiers: chr7:g.92146667_92146668insCCT (hg19) ; chr7:g.92517353_92517354insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517353_92517354insCCT , CM000669.2:g.92517353_92517354insCCT	GRCh38
NC_000007.13:g.92146667_92146668insCCT , CM000669.1:g.92146667_92146668insCCT	GRCh37
NC_000007.12:g.91984603_91984604insCCT	NCBI36
NG_008341.1:g.16178_16179insAGG
NG_008341.2:g.16178_16179insAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1161_1162insAGG MANE Select	ENSP00000248633.4:p.Val387_Trp388insArg
ENST00000248633.8:c.1161_1162insAGG	ENSP00000248633.4:p.Val387_Trp388insArg
ENST00000422866.1:c.62_63insAGG
ENST00000428214.5:c.1161_1162insAGG	ENSP00000394413.1:p.Val387_Trp388insArg
ENST00000438045.5:c.274-3387_274-3386insAGG	ENSP00000410438.1:n.274-3387_274-3386insA...
ENST00000484913.5:n.1200_1201insAGG
NM_000466.2:c.1161_1162insAGG	NP_000457.1:p.Val387_Trp388insArg
NM_001282677.1:c.1161_1162insAGG	NP_001269606.1:p.Val387_Trp388insArg
NM_001282678.1:c.537_538insAGG	NP_001269607.1:p.Val179_Trp180insArg
XR_242246.3:n.1257_1258insAGG
XM_017012319.2:c.-506_-505insAGG	XP_016867808.1:n.-506_-505insAGG
XR_001744808.2:n.271_272insAGG
XR_242246.5:n.1208_1209insAGG
NM_000466.3:c.1161_1162insAGG MANE Select	NP_000457.1:p.Val387_Trp388insArg
NM_001282677.2:c.1161_1162insAGG	NP_001269606.1:p.Val387_Trp388insArg
NM_001282678.2:c.537_538insAGG	NP_001269607.1:p.Val179_Trp180insArg