Canonical Allele Identifier: CA161973937

Gene: PEX1

Linked Data

• dbSNP Id: rs868782701
• MyVariant Identifiers: chr7:g.92147305_92147306insC (hg19) ; chr7:g.92517991_92517992insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517991_92517992insC , CM000669.2:g.92517991_92517992insC	GRCh38
NC_000007.13:g.92147305_92147306insC , CM000669.1:g.92147305_92147306insC	GRCh37
NC_000007.12:g.91985241_91985242insC	NCBI36
NG_008341.1:g.15540_15541insG
NG_008341.2:g.15540_15541insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.523_524insG MANE Select	ENSP00000248633.4:p.Leu175ArgfsTer19
ENST00000248633.8:c.523_524insG	ENSP00000248633.4:p.Leu175ArgfsTer19
ENST00000428214.5:c.523_524insG	ENSP00000394413.1:p.Leu175ArgfsTer19
ENST00000438045.5:c.274-4025_274-4024insG	ENSP00000410438.1:n.274-4025_274-4024insG
ENST00000484913.5:n.562_563insG
NM_000466.2:c.523_524insG	NP_000457.1:p.Leu175ArgfsTer19
NM_001282677.1:c.523_524insG	NP_001269606.1:p.Leu175ArgfsTer19
NM_001282678.1:c.-102_-101insG	NP_001269607.1:n.-102_-101insG
XR_242246.3:n.619_620insG
XR_242246.5:n.570_571insG
NM_000466.3:c.523_524insG MANE Select	NP_000457.1:p.Leu175ArgfsTer19
NM_001282677.2:c.523_524insG	NP_001269606.1:p.Leu175ArgfsTer19
NM_001282678.2:c.-102_-101insG	NP_001269607.1:n.-102_-101insG