Canonical Allele Identifier: CA2580615929

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1726581
• ClinVar RCV Id: RCV002310265 ; RCV003475337 ; RCV003759100
• gnomAD v4: 7-92491448-TAAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491453_92491456del , CM000669.2:g.92491453_92491456del	GRCh38
NC_000007.13:g.92120767_92120770del , CM000669.1:g.92120767_92120770del	GRCh37
NC_000007.12:g.91958703_91958706del	NCBI36
NG_008341.1:g.42080_42083del
NG_008341.2:g.42080_42083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3258_3261del (PEX1) MANE Select	ENSP00000248633.4:p.Phe1086LeufsTer18
ENST00000248633.8:c.3258_3261del (PEX1)	ENSP00000248633.4:p.Phe1086LeufsTer18
ENST00000428214.5:c.3087_3090del (PEX1)	ENSP00000394413.1:p.Phe1029LeufsTer18
ENST00000438045.5:c.2292_2295del (PEX1)	ENSP00000410438.1:p.Phe764LeufsTer18
ENST00000484913.5:n.3297_3300del (PEX1)
ENST00000496420.5:n.4313_4316del (PEX1)
NM_000466.2:c.3258_3261del (PEX1)	NP_000457.1:p.Phe1086LeufsTer18
NM_001282677.1:c.3087_3090del (PEX1)	NP_001269606.1:p.Phe1029LeufsTer18
NM_001282678.1:c.2634_2637del (PEX1)	NP_001269607.1:p.Phe878LeufsTer18
XM_005250433.3:c.1509_1512del (PEX1)	XP_005250490.1:p.Phe503LeufsTer18
XR_242246.3:n.3354_3357del (PEX1)
XM_017012319.2:c.1509_1512del (PEX1)	XP_016867808.1:p.Phe503LeufsTer18
XR_001744808.2:n.2285_2288del (PEX1)
XR_001744842.2:n.2491_2494del (GATAD1)
XR_001744843.2:n.2422_2425del (GATAD1)
XR_002956472.1:n.2548_2551del (GATAD1)
XR_002956473.1:n.2579_2582del (GATAD1)
XR_002956474.1:n.2496_2499del (GATAD1)
XR_242246.5:n.3305_3308del (PEX1)
XR_927494.3:n.1273_1276del (GATAD1)
XR_927500.3:n.1270_1273del (GATAD1)
XR_927503.3:n.1204_1207del (GATAD1)
NM_000466.3:c.3258_3261del (PEX1) MANE Select	NP_000457.1:p.Phe1086LeufsTer18
NM_001282677.2:c.3087_3090del (PEX1)	NP_001269606.1:p.Phe1029LeufsTer18
NM_001282678.2:c.2634_2637del (PEX1)	NP_001269607.1:p.Phe878LeufsTer18