Canonical Allele Identifier: CA2578937846

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494502-CTCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494507_92494510del , CM000669.2:g.92494507_92494510del	GRCh38
NC_000007.13:g.92123821_92123824del , CM000669.1:g.92123821_92123824del	GRCh37
NC_000007.12:g.91961757_91961760del	NCBI36
NG_008341.1:g.39026_39029del
NG_008341.2:g.39026_39029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2907_2910del (PEX1) MANE Select	ENSP00000248633.4:p.Asp969GlufsTer2
ENST00000248633.8:c.2907_2910del (PEX1)	ENSP00000248633.4:p.Asp969GlufsTer2
ENST00000428214.5:c.2736_2739del (PEX1)	ENSP00000394413.1:p.Asp912GlufsTer2
ENST00000438045.5:c.1941_1944del (PEX1)	ENSP00000410438.1:p.Asp647GlufsTer2
ENST00000484913.5:n.2946_2949del (PEX1)
ENST00000496420.5:n.2799_2802del (PEX1)
NM_000466.2:c.2907_2910del (PEX1)	NP_000457.1:p.Asp969GlufsTer2
NM_001282677.1:c.2736_2739del (PEX1)	NP_001269606.1:p.Asp912GlufsTer2
NM_001282678.1:c.2283_2286del (PEX1)	NP_001269607.1:p.Asp761GlufsTer2
XM_005250433.3:c.1158_1161del (PEX1)	XP_005250490.1:p.Asp386GlufsTer2
XR_242246.3:n.3003_3006del (PEX1)
XM_017012319.2:c.1158_1161del (PEX1)	XP_016867808.1:p.Asp386GlufsTer2
XR_001744808.2:n.1934_1937del (PEX1)
XR_001744843.2:n.5476_5479del (GATAD1)
XR_242246.5:n.2954_2957del (PEX1)
XR_927494.3:n.4327_4330del (GATAD1)
XR_927503.3:n.4258_4261del (GATAD1)
NM_000466.3:c.2907_2910del (PEX1) MANE Select	NP_000457.1:p.Asp969GlufsTer2
NM_001282677.2:c.2736_2739del (PEX1)	NP_001269606.1:p.Asp912GlufsTer2
NM_001282678.2:c.2283_2286del (PEX1)	NP_001269607.1:p.Asp761GlufsTer2