Canonical Allele Identifier: CA2683718902

Gene: PEX1

Linked Data

• gnomAD v4: 7-92504964-T-TATAAAATTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504964_92504965insATAAAATTGAG , CM000669.2:g.92504964_92504965insATAAAATTGAG	GRCh38
NC_000007.13:g.92134278_92134279insATAAAATTGAG , CM000669.1:g.92134278_92134279insATAAAATTGAG	GRCh37
NC_000007.12:g.91972214_91972215insATAAAATTGAG	NCBI36
NG_008341.1:g.28567_28568insCTCAATTTTAT
NG_008341.2:g.28567_28568insCTCAATTTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-63_1901-62insCTCAATTTTAT MANE Select	ENSP00000248633.4:n.1901-63_1901-62insCTCAATTTTAT
ENST00000248633.8:c.1901-63_1901-62insCTCAATTTTAT	ENSP00000248633.4:n.1901-63_1901-62insCTCAATTTTAT
ENST00000422866.1:c.719-63_719-62insCTCAATTTTAT
ENST00000428214.5:c.1900+1283_1900+1284insCTCAATTTTAT	ENSP00000394413.1:n.1900+1283_1900+1284insCTCAATTTTAT
ENST00000438045.5:c.935-63_935-62insCTCAATTTTAT	ENSP00000410438.1:n.935-63_935-62insCTCAATTTTAT
ENST00000484913.5:n.1940-63_1940-62insCTCAATTTTAT
ENST00000496420.5:n.1577-63_1577-62insCTCAATTTTAT
NM_000466.2:c.1901-63_1901-62insCTCAATTTTAT	NP_000457.1:n.1901-63_1901-62insCTCAATTTTAT
NM_001282677.1:c.1900+1283_1900+1284insCTCAATTTTAT	NP_001269606.1:n.1900+1283_1900+1284insCTCAATTTTAT
NM_001282678.1:c.1277-63_1277-62insCTCAATTTTAT	NP_001269607.1:n.1277-63_1277-62insCTCAATTTTAT
XM_005250433.3:c.152-63_152-62insCTCAATTTTAT	XP_005250490.1:n.152-63_152-62insCTCAATTTTAT
XR_242246.3:n.1997-63_1997-62insCTCAATTTTAT
XM_017012319.2:c.152-63_152-62insCTCAATTTTAT	XP_016867808.1:n.152-63_152-62insCTCAATTTTAT
XR_001744808.2:n.928-63_928-62insCTCAATTTTAT
XR_242246.5:n.1948-63_1948-62insCTCAATTTTAT
NM_000466.3:c.1901-63_1901-62insCTCAATTTTAT MANE Select	NP_000457.1:n.1901-63_1901-62insCTCAATTTTAT
NM_001282677.2:c.1900+1283_1900+1284insCTCAATTTTAT	NP_001269606.1:n.1900+1283_1900+1284insCTCAATTTTAT
NM_001282678.2:c.1277-63_1277-62insCTCAATTTTAT	NP_001269607.1:n.1277-63_1277-62insCTCAATTTTAT