Canonical Allele Identifier: CA843852536

Gene: PEX1

Linked Data

• dbSNP Id: rs1346220636
• gnomAD v4: 7-92510982-GA-G
• MyVariant Identifiers: chr7:g.92140297del (hg19) ; chr7:g.92510983del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510987del , CM000669.2:g.92510987del	GRCh38
NC_000007.13:g.92140301del , CM000669.1:g.92140301del	GRCh37
NC_000007.12:g.91978237del	NCBI36
NG_008341.1:g.22549del
NG_008341.2:g.22549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1548del MANE Select	ENSP00000248633.4:p.Leu517CysfsTer2
ENST00000248633.8:c.1548del	ENSP00000248633.4:p.Leu517CysfsTer2
ENST00000422866.1:c.449del
ENST00000428214.5:c.1548del	ENSP00000394413.1:p.Leu517CysfsTer2
ENST00000438045.5:c.582del	ENSP00000410438.1:p.Leu195CysfsTer2
ENST00000476923.1:n.309del
ENST00000484913.5:n.1587del
NM_000466.2:c.1548del	NP_000457.1:p.Leu517CysfsTer2
NM_001282677.1:c.1548del	NP_001269606.1:p.Leu517CysfsTer2
NM_001282678.1:c.924del	NP_001269607.1:p.Leu309CysfsTer2
XM_005250433.3:c.-119del	XP_005250490.1:n.-119del
XR_242246.3:n.1644del
XM_017012319.2:c.-119del	XP_016867808.1:n.-119del
XR_001744808.2:n.658del
XR_242246.5:n.1595del
NM_000466.3:c.1548del MANE Select	NP_000457.1:p.Leu517CysfsTer2
NM_001282677.2:c.1548del	NP_001269606.1:p.Leu517CysfsTer2
NM_001282678.2:c.924del	NP_001269607.1:p.Leu309CysfsTer2