Canonical Allele Identifier: CA2683721401

Gene: PEX1

Linked Data

• gnomAD v4: 7-92522346-TTCTATAGATAGTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522350_92522363del , CM000669.2:g.92522350_92522363del	GRCh38
NC_000007.13:g.92151664_92151677del , CM000669.1:g.92151664_92151677del	GRCh37
NC_000007.12:g.91989600_91989613del	NCBI36
NG_008341.1:g.11172_11185del
NG_008341.2:g.11172_11185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.130-115_130-102del MANE Select	ENSP00000248633.4:n.130-115_130-102del
ENST00000248633.8:c.130-115_130-102del	ENSP00000248633.4:n.130-115_130-102del
ENST00000428214.5:c.130-115_130-102del	ENSP00000394413.1:n.130-115_130-102del
ENST00000438045.5:c.130-115_130-102del	ENSP00000410438.1:n.130-115_130-102del
ENST00000484913.5:n.134-115_134-102del
NM_000466.2:c.130-115_130-102del	NP_000457.1:n.130-115_130-102del
NM_001282677.1:c.130-115_130-102del	NP_001269606.1:n.130-115_130-102del
NM_001282678.1:c.-530-115_-530-102del	NP_001269607.1:n.-530-115_-530-102del
XR_242246.3:n.226-115_226-102del
XR_242246.5:n.177-115_177-102del
NM_000466.3:c.130-115_130-102del MANE Select	NP_000457.1:n.130-115_130-102del
NM_001282677.2:c.130-115_130-102del	NP_001269606.1:n.130-115_130-102del
NM_001282678.2:c.-530-115_-530-102del	NP_001269607.1:n.-530-115_-530-102del