Canonical Allele Identifier: CA2683720518

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517998-TGTCAGTTTCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518000_92518010del , CM000669.2:g.92518000_92518010del	GRCh38
NC_000007.13:g.92147314_92147324del , CM000669.1:g.92147314_92147324del	GRCh37
NC_000007.12:g.91985250_91985260del	NCBI36
NG_008341.1:g.15523_15533del
NG_008341.2:g.15523_15533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.506_516del MANE Select	ENSP00000248633.4:p.Leu169HisfsTer21
ENST00000248633.8:c.506_516del	ENSP00000248633.4:p.Leu169HisfsTer21
ENST00000428214.5:c.506_516del	ENSP00000394413.1:p.Leu169HisfsTer21
ENST00000438045.5:c.274-4042_274-4032del	ENSP00000410438.1:n.274-4042_274-4032del
ENST00000484913.5:n.545_555del
NM_000466.2:c.506_516del	NP_000457.1:p.Leu169HisfsTer21
NM_001282677.1:c.506_516del	NP_001269606.1:p.Leu169HisfsTer21
NM_001282678.1:c.-119_-109del	NP_001269607.1:n.-119_-109del
XR_242246.3:n.602_612del
XR_242246.5:n.553_563del
NM_000466.3:c.506_516del MANE Select	NP_000457.1:p.Leu169HisfsTer21
NM_001282677.2:c.506_516del	NP_001269606.1:p.Leu169HisfsTer21
NM_001282678.2:c.-119_-109del	NP_001269607.1:n.-119_-109del