Canonical Allele Identifier: CA2683718029

Gene: PEX1

Linked Data

• gnomAD v4: 7-92494742-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494744_92494745del , CM000669.2:g.92494744_92494745del	GRCh38
NC_000007.13:g.92124058_92124059del , CM000669.1:g.92124058_92124059del	GRCh37
NC_000007.12:g.91961994_91961995del	NCBI36
NG_008341.1:g.38788_38789del
NG_008341.2:g.38788_38789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-115_2784-114del MANE Select	ENSP00000248633.4:n.2784-115_2784-114del
ENST00000248633.8:c.2784-115_2784-114del	ENSP00000248633.4:n.2784-115_2784-114del
ENST00000428214.5:c.2613-115_2613-114del	ENSP00000394413.1:n.2613-115_2613-114del
ENST00000438045.5:c.1818-115_1818-114del	ENSP00000410438.1:n.1818-115_1818-114del
ENST00000484913.5:n.2823-115_2823-114del
ENST00000496420.5:n.2676-115_2676-114del
NM_000466.2:c.2784-115_2784-114del	NP_000457.1:n.2784-115_2784-114del
NM_001282677.1:c.2613-115_2613-114del	NP_001269606.1:n.2613-115_2613-114del
NM_001282678.1:c.2160-115_2160-114del	NP_001269607.1:n.2160-115_2160-114del
XM_005250433.3:c.1035-115_1035-114del	XP_005250490.1:n.1035-115_1035-114del
XR_242246.3:n.2880-115_2880-114del
XM_017012319.2:c.1035-115_1035-114del	XP_016867808.1:n.1035-115_1035-114del
XR_001744808.2:n.1811-115_1811-114del
XR_242246.5:n.2831-115_2831-114del
NM_000466.3:c.2784-115_2784-114del MANE Select	NP_000457.1:n.2784-115_2784-114del
NM_001282677.2:c.2613-115_2613-114del	NP_001269606.1:n.2613-115_2613-114del
NM_001282678.2:c.2160-115_2160-114del	NP_001269607.1:n.2160-115_2160-114del