Canonical Allele Identifier: CA4341598

Gene: PEX1

Linked Data

• dbSNP Id: rs778797572
• ExAC: 7:92147417 G / GTGTAGAAT
• gnomAD v2: 7-92147417-G-GTGTAGAAT
• gnomAD v4: 7-92518103-G-GTGTAGAAT
• MyVariant Identifiers: chr7:g.92147417_92147418insTGTAGAAT (hg19) ; chr7:g.92518103_92518104insTGTAGAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518104_92518111dup , CM000669.2:g.92518104_92518111dup	GRCh38
NC_000007.13:g.92147418_92147425dup , CM000669.1:g.92147418_92147425dup	GRCh37
NC_000007.12:g.91985354_91985361dup	NCBI36
NG_008341.1:g.15421_15428dup
NG_008341.2:g.15421_15428dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.472+30_472+37dup MANE Select	ENSP00000248633.4:n.472+30_472+37dup
ENST00000248633.8:c.472+30_472+37dup	ENSP00000248633.4:n.472+30_472+37dup
ENST00000428214.5:c.472+30_472+37dup	ENSP00000394413.1:n.472+30_472+37dup
ENST00000438045.5:c.273+3991_273+3998dup	ENSP00000410438.1:n.273+3991_273+3998dup
ENST00000484913.5:n.511+30_511+37dup
NM_000466.2:c.472+30_472+37dup	NP_000457.1:n.472+30_472+37dup
NM_001282677.1:c.472+30_472+37dup	NP_001269606.1:n.472+30_472+37dup
NM_001282678.1:c.-153+30_-153+37dup	NP_001269607.1:n.-153+30_-153+37dup
XR_242246.3:n.568+30_568+37dup
XR_242246.5:n.519+30_519+37dup
NM_000466.3:c.472+30_472+37dup MANE Select	NP_000457.1:n.472+30_472+37dup
NM_001282677.2:c.472+30_472+37dup	NP_001269606.1:n.472+30_472+37dup
NM_001282678.2:c.-153+30_-153+37dup	NP_001269607.1:n.-153+30_-153+37dup