Canonical Allele Identifier: CA576308379

Gene: PEX1

Linked Data

• dbSNP Id: rs1244672341
• gnomAD v2: 7-92148416-ACTACTTT-A
• MyVariant Identifiers: chr7:g.92148417_92148423del (hg19) ; chr7:g.92519103_92519109del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519103_92519109del , CM000669.2:g.92519103_92519109del	GRCh38
NC_000007.13:g.92148417_92148423del , CM000669.1:g.92148417_92148423del	GRCh37
NC_000007.12:g.91986353_91986359del	NCBI36
NG_008341.1:g.14423_14429del
NG_008341.2:g.14423_14429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-31_274-25del MANE Select	ENSP00000248633.4:n.274-31_274-25del
ENST00000248633.8:c.274-31_274-25del	ENSP00000248633.4:n.274-31_274-25del
ENST00000428214.5:c.274-31_274-25del	ENSP00000394413.1:n.274-31_274-25del
ENST00000438045.5:c.273+2993_273+2999del	ENSP00000410438.1:n.273+2993_273+2999del
ENST00000484913.5:n.278-31_278-25del
NM_000466.2:c.274-31_274-25del	NP_000457.1:n.274-31_274-25del
NM_001282677.1:c.274-31_274-25del	NP_001269606.1:n.274-31_274-25del
NM_001282678.1:c.-386-31_-386-25del	NP_001269607.1:n.-386-31_-386-25del
XR_242246.3:n.370-31_370-25del
XR_242246.5:n.321-31_321-25del
NM_000466.3:c.274-31_274-25del MANE Select	NP_000457.1:n.274-31_274-25del
NM_001282677.2:c.274-31_274-25del	NP_001269606.1:n.274-31_274-25del
NM_001282678.2:c.-386-31_-386-25del	NP_001269607.1:n.-386-31_-386-25del