Canonical Allele Identifier: CA658823122

Gene: PEX1

Linked Data

• ClinVar Variation Id: 555803
• ClinVar RCV Id: RCV000671695 ; RCV000735182
• dbSNP Id: rs1357462196
• MyVariant Identifiers: chr7:g.92134099_92134107del (hg19) ; chr7:g.92504785_92504793del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504786_92504794del , CM000669.2:g.92504786_92504794del	GRCh38
NC_000007.13:g.92134100_92134108del , CM000669.1:g.92134100_92134108del	GRCh37
NC_000007.12:g.91972036_91972044del	NCBI36
NG_008341.1:g.28739_28747del
NG_008341.2:g.28739_28747del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2010_2018del MANE Select	ENSP00000248633.4:p.Pro671_Val673del
ENST00000248633.8:c.2010_2018del	ENSP00000248633.4:p.Pro671_Val673del
ENST00000428214.5:c.1900+1455_1900+1463del	ENSP00000394413.1:n.1900+1455_1900+1463de...
ENST00000438045.5:c.1044_1052del	ENSP00000410438.1:p.Pro349_Val351del
ENST00000484913.5:n.2049_2057del
ENST00000496420.5:n.1686_1694del
NM_000466.2:c.2010_2018del	NP_000457.1:p.Pro671_Val673del
NM_001282677.1:c.1900+1455_1900+1463del	NP_001269606.1:n.1900+1455_1900+1463del
NM_001282678.1:c.1386_1394del	NP_001269607.1:p.Pro463_Val465del
XM_005250433.3:c.261_269del	XP_005250490.1:p.Pro88_Val90del
XR_242246.3:n.2106_2114del
XM_017012319.2:c.261_269del	XP_016867808.1:p.Pro88_Val90del
XR_001744808.2:n.1037_1045del
XR_242246.5:n.2057_2065del
NM_000466.3:c.2010_2018del MANE Select	NP_000457.1:p.Pro671_Val673del
NM_001282677.2:c.1900+1455_1900+1463del	NP_001269606.1:n.1900+1455_1900+1463del
NM_001282678.2:c.1386_1394del	NP_001269607.1:p.Pro463_Val465del