Canonical Allele Identifier: CA576706710

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1286363343
• gnomAD v2: 7-92123851-CGG-C
• gnomAD v4: 7-92494537-CGG-C
• MyVariant Identifiers: chr7:g.92123852_92123853del (hg19) ; chr7:g.92494538_92494539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494538_92494539del , CM000669.2:g.92494538_92494539del	GRCh38
NC_000007.13:g.92123852_92123853del , CM000669.1:g.92123852_92123853del	GRCh37
NC_000007.12:g.91961788_91961789del	NCBI36
NG_008341.1:g.38993_38994del
NG_008341.2:g.38993_38994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2874_2875del (PEX1) MANE Select	ENSP00000248633.4:p.Asp958GlufsTer4
ENST00000248633.8:c.2874_2875del (PEX1)	ENSP00000248633.4:p.Asp958GlufsTer4
ENST00000428214.5:c.2703_2704del (PEX1)	ENSP00000394413.1:p.Asp901GlufsTer4
ENST00000438045.5:c.1908_1909del (PEX1)	ENSP00000410438.1:p.Asp636GlufsTer4
ENST00000484913.5:n.2913_2914del (PEX1)
ENST00000496420.5:n.2766_2767del (PEX1)
NM_000466.2:c.2874_2875del (PEX1)	NP_000457.1:p.Asp958GlufsTer4
NM_001282677.1:c.2703_2704del (PEX1)	NP_001269606.1:p.Asp901GlufsTer4
NM_001282678.1:c.2250_2251del (PEX1)	NP_001269607.1:p.Asp750GlufsTer4
XM_005250433.3:c.1125_1126del (PEX1)	XP_005250490.1:p.Asp375GlufsTer4
XR_242246.3:n.2970_2971del (PEX1)
XM_017012319.2:c.1125_1126del (PEX1)	XP_016867808.1:p.Asp375GlufsTer4
XR_001744808.2:n.1901_1902del (PEX1)
XR_001744843.2:n.5507_5508del (GATAD1)
XR_242246.5:n.2921_2922del (PEX1)
XR_927494.3:n.4358_4359del (GATAD1)
XR_927503.3:n.4289_4290del (GATAD1)
NM_000466.3:c.2874_2875del (PEX1) MANE Select	NP_000457.1:p.Asp958GlufsTer4
NM_001282677.2:c.2703_2704del (PEX1)	NP_001269606.1:p.Asp901GlufsTer4
NM_001282678.2:c.2250_2251del (PEX1)	NP_001269607.1:p.Asp750GlufsTer4