Canonical Allele Identifier: CA576706655

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1614926
• ClinVar RCV Id: RCV002074519
• dbSNP Id: rs1236657615
• gnomAD v2: 7-92147369-TA-T
• gnomAD v3: 7-92518055-TA-T
• gnomAD v4: 7-92518055-TA-T
• MyVariant Identifiers: chr7:g.92147370del (hg19) ; chr7:g.92518056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518058del , CM000669.2:g.92518058del	GRCh38
NC_000007.13:g.92147372del , CM000669.1:g.92147372del	GRCh37
NC_000007.12:g.91985308del	NCBI36
NG_008341.1:g.15476del
NG_008341.2:g.15476del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.473-14del MANE Select	ENSP00000248633.4:n.473-14del
ENST00000248633.8:c.473-14del	ENSP00000248633.4:n.473-14del
ENST00000428214.5:c.473-14del	ENSP00000394413.1:n.473-14del
ENST00000438045.5:c.273+4046del	ENSP00000410438.1:n.273+4046del
ENST00000484913.5:n.512-14del
NM_000466.2:c.473-14del	NP_000457.1:n.473-14del
NM_001282677.1:c.473-14del	NP_001269606.1:n.473-14del
NM_001282678.1:c.-152-14del	NP_001269607.1:n.-152-14del
XR_242246.3:n.569-14del
XR_242246.5:n.520-14del
NM_000466.3:c.473-14del MANE Select	NP_000457.1:n.473-14del
NM_001282677.2:c.473-14del	NP_001269606.1:n.473-14del
NM_001282678.2:c.-152-14del	NP_001269607.1:n.-152-14del