Canonical Allele Identifier: CA1725928607

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791318961
• gnomAD v4: 7-92491497-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491499del , CM000669.2:g.92491499del	GRCh38
NC_000007.13:g.92120813del , CM000669.1:g.92120813del	GRCh37
NC_000007.12:g.91958749del	NCBI36
NG_008341.1:g.42034del
NG_008341.2:g.42034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3212del (PEX1) MANE Select	ENSP00000248633.4:p.Gly1071GlufsTer9
ENST00000248633.8:c.3212del (PEX1)	ENSP00000248633.4:p.Gly1071GlufsTer9
ENST00000428214.5:c.3041del (PEX1)	ENSP00000394413.1:p.Gly1014GlufsTer9
ENST00000438045.5:c.2246del (PEX1)	ENSP00000410438.1:p.Gly749GlufsTer9
ENST00000484913.5:n.3251del (PEX1)
ENST00000496420.5:n.4267del (PEX1)
NM_000466.2:c.3212del (PEX1)	NP_000457.1:p.Gly1071GlufsTer9
NM_001282677.1:c.3041del (PEX1)	NP_001269606.1:p.Gly1014GlufsTer9
NM_001282678.1:c.2588del (PEX1)	NP_001269607.1:p.Gly863GlufsTer9
XM_005250433.3:c.1463del (PEX1)	XP_005250490.1:p.Gly488GlufsTer9
XR_242246.3:n.3308del (PEX1)
XM_017012319.2:c.1463del (PEX1)	XP_016867808.1:p.Gly488GlufsTer9
XR_001744808.2:n.2239del (PEX1)
XR_001744842.2:n.2537del (GATAD1)
XR_001744843.2:n.2468del (GATAD1)
XR_002956472.1:n.2594del (GATAD1)
XR_002956473.1:n.2625del (GATAD1)
XR_002956474.1:n.2542del (GATAD1)
XR_242246.5:n.3259del (PEX1)
XR_927494.3:n.1319del (GATAD1)
XR_927500.3:n.1316del (GATAD1)
XR_927503.3:n.1250del (GATAD1)
NM_000466.3:c.3212del (PEX1) MANE Select	NP_000457.1:p.Gly1071GlufsTer9
NM_001282677.2:c.3041del (PEX1)	NP_001269606.1:p.Gly1014GlufsTer9
NM_001282678.2:c.2588del (PEX1)	NP_001269607.1:p.Gly863GlufsTer9