Canonical Allele Identifier: CA2578937879

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496717-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496722del , CM000669.2:g.92496722del	GRCh38
NC_000007.13:g.92126036del , CM000669.1:g.92126036del	GRCh37
NC_000007.12:g.91963972del	NCBI36
NG_008341.1:g.36814del
NG_008341.2:g.36814del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2778del MANE Select	ENSP00000248633.4:p.Phe926LeufsTer?
ENST00000248633.8:c.2778del	ENSP00000248633.4:p.Phe926LeufsTer?
ENST00000428214.5:c.2607del	ENSP00000394413.1:p.Phe869LeufsTer?
ENST00000438045.5:c.1812del	ENSP00000410438.1:p.Phe604LeufsTer?
ENST00000484913.5:n.2817del
ENST00000496420.5:n.2670del
NM_000466.2:c.2778del	NP_000457.1:p.Phe926LeufsTer?
NM_001282677.1:c.2607del	NP_001269606.1:p.Phe869LeufsTer?
NM_001282678.1:c.2154del	NP_001269607.1:p.Phe718LeufsTer?
XM_005250433.3:c.1029del	XP_005250490.1:p.Phe343LeufsTer?
XR_242246.3:n.2874del
XM_017012319.2:c.1029del	XP_016867808.1:p.Phe343LeufsTer?
XR_001744808.2:n.1805del
XR_242246.5:n.2825del
NM_000466.3:c.2778del MANE Select	NP_000457.1:p.Phe926LeufsTer?
NM_001282677.2:c.2607del	NP_001269606.1:p.Phe869LeufsTer?
NM_001282678.2:c.2154del	NP_001269607.1:p.Phe718LeufsTer?