Canonical Allele Identifier: CA2683718713

Gene: PEX1

Linked Data

• gnomAD v4: 7-92504653-GAGAGTAGATTTATTGTTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504657_92504674del , CM000669.2:g.92504657_92504674del	GRCh38
NC_000007.13:g.92133971_92133988del , CM000669.1:g.92133971_92133988del	GRCh37
NC_000007.12:g.91971907_91971924del	NCBI36
NG_008341.1:g.28861_28878del
NG_008341.2:g.28861_28878del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+61_2071+78del MANE Select	ENSP00000248633.4:n.2071+61_2071+78del
ENST00000248633.8:c.2071+61_2071+78del	ENSP00000248633.4:n.2071+61_2071+78del
ENST00000428214.5:c.1901-1476_1901-1459del	ENSP00000394413.1:n.1901-1476_1901-1459de...
ENST00000438045.5:c.1105+61_1105+78del	ENSP00000410438.1:n.1105+61_1105+78del
ENST00000484913.5:n.2110+61_2110+78del
ENST00000496420.5:n.1747+61_1747+78del
NM_000466.2:c.2071+61_2071+78del	NP_000457.1:n.2071+61_2071+78del
NM_001282677.1:c.1901-1476_1901-1459del	NP_001269606.1:n.1901-1476_1901-1459del
NM_001282678.1:c.1447+61_1447+78del	NP_001269607.1:n.1447+61_1447+78del
XM_005250433.3:c.322+61_322+78del	XP_005250490.1:n.322+61_322+78del
XR_242246.3:n.2167+61_2167+78del
XM_017012319.2:c.322+61_322+78del	XP_016867808.1:n.322+61_322+78del
XR_001744808.2:n.1098+61_1098+78del
XR_242246.5:n.2118+61_2118+78del
NM_000466.3:c.2071+61_2071+78del MANE Select	NP_000457.1:n.2071+61_2071+78del
NM_001282677.2:c.1901-1476_1901-1459del	NP_001269606.1:n.1901-1476_1901-1459del
NM_001282678.2:c.1447+61_1447+78del	NP_001269607.1:n.1447+61_1447+78del