Canonical Allele Identifier: CA2683718936

Gene: PEX1

Linked Data

• gnomAD v4: 7-92505022-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92505026del , CM000669.2:g.92505026del	GRCh38
NC_000007.13:g.92134340del , CM000669.1:g.92134340del	GRCh37
NC_000007.12:g.91972276del	NCBI36
NG_008341.1:g.28509del
NG_008341.2:g.28509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-121del MANE Select	ENSP00000248633.4:n.1901-121del
ENST00000248633.8:c.1901-121del	ENSP00000248633.4:n.1901-121del
ENST00000422866.1:c.719-121del
ENST00000428214.5:c.1900+1225del	ENSP00000394413.1:n.1900+1225del
ENST00000438045.5:c.935-121del	ENSP00000410438.1:n.935-121del
ENST00000484913.5:n.1940-121del
ENST00000496420.5:n.1577-121del
NM_000466.2:c.1901-121del	NP_000457.1:n.1901-121del
NM_001282677.1:c.1900+1225del	NP_001269606.1:n.1900+1225del
NM_001282678.1:c.1277-121del	NP_001269607.1:n.1277-121del
XM_005250433.3:c.152-121del	XP_005250490.1:n.152-121del
XR_242246.3:n.1997-121del
XM_017012319.2:c.152-121del	XP_016867808.1:n.152-121del
XR_001744808.2:n.928-121del
XR_242246.5:n.1948-121del
NM_000466.3:c.1901-121del MANE Select	NP_000457.1:n.1901-121del
NM_001282677.2:c.1900+1225del	NP_001269606.1:n.1900+1225del
NM_001282678.2:c.1277-121del	NP_001269607.1:n.1277-121del