Canonical Allele Identifier: CA2573131748

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1457878
• ClinVar RCV Id: RCV001949361
• dbSNP Id: rs2116245323
• gnomAD v4: 7-92517680-TTGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517683_92517686del , CM000669.2:g.92517683_92517686del	GRCh38
NC_000007.13:g.92146997_92147000del , CM000669.1:g.92146997_92147000del	GRCh37
NC_000007.12:g.91984933_91984936del	NCBI36
NG_008341.1:g.15848_15851del
NG_008341.2:g.15848_15851del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.831_834del MANE Select	ENSP00000248633.4:p.Ser278ArgfsTer5
ENST00000248633.8:c.831_834del	ENSP00000248633.4:p.Ser278ArgfsTer5
ENST00000428214.5:c.831_834del	ENSP00000394413.1:p.Ser278ArgfsTer5
ENST00000438045.5:c.274-3717_274-3714del	ENSP00000410438.1:n.274-3717_274-3714del
ENST00000484913.5:n.870_873del
NM_000466.2:c.831_834del	NP_000457.1:p.Ser278ArgfsTer5
NM_001282677.1:c.831_834del	NP_001269606.1:p.Ser278ArgfsTer5
NM_001282678.1:c.207_210del	NP_001269607.1:p.Ser70ArgfsTer5
XR_242246.3:n.927_930del
XR_242246.5:n.878_881del
NM_000466.3:c.831_834del MANE Select	NP_000457.1:p.Ser278ArgfsTer5
NM_001282677.2:c.831_834del	NP_001269606.1:p.Ser278ArgfsTer5
NM_001282678.2:c.207_210del	NP_001269607.1:p.Ser70ArgfsTer5