Canonical Allele Identifier: CA4341490

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371779
• ClinVar RCV Id: RCV001210281 ; RCV001810874 ; RCV003475990
• dbSNP Id: rs61750406
• ExAC: 7:92146720 AT / A
• gnomAD v2: 7-92146720-AT-A
• gnomAD v3: 7-92517406-AT-A
• gnomAD v4: 7-92517406-AT-A
• COSMIC: COSM404963
• MyVariant Identifiers: chr7:g.92146721del (hg19) ; chr7:g.92517407del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517415del , CM000669.2:g.92517415del	GRCh38
NC_000007.13:g.92146729del , CM000669.1:g.92146729del	GRCh37
NC_000007.12:g.91984665del	NCBI36
NG_008341.1:g.16125del
NG_008341.2:g.16125del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1108del MANE Select	ENSP00000248633.4:p.Ile370LeufsTer17
ENST00000248633.8:c.1108del	ENSP00000248633.4:p.Ile370LeufsTer17
ENST00000422866.1:c.9del
ENST00000428214.5:c.1108del	ENSP00000394413.1:p.Ile370LeufsTer17
ENST00000438045.5:c.274-3440del	ENSP00000410438.1:n.274-3440del
ENST00000484913.5:n.1147del
NM_000466.2:c.1108del	NP_000457.1:p.Ile370LeufsTer17
NM_001282677.1:c.1108del	NP_001269606.1:p.Ile370LeufsTer17
NM_001282678.1:c.484del	NP_001269607.1:p.Ile162LeufsTer17
XR_242246.3:n.1204del
XM_017012319.2:c.-559del	XP_016867808.1:n.-559del
XR_001744808.2:n.218del
XR_242246.5:n.1155del
NM_000466.3:c.1108del MANE Select	NP_000457.1:p.Ile370LeufsTer17
NM_001282677.2:c.1108del	NP_001269606.1:p.Ile370LeufsTer17
NM_001282678.2:c.484del	NP_001269607.1:p.Ile162LeufsTer17