Canonical Allele Identifier: CA658823309

Gene: PEX7

Linked Data

• ClinVar Variation Id: 554814
• ClinVar RCV Id: RCV000670509
• dbSNP Id: rs1554335926
• MyVariant Identifiers: chr6:g.136898155del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898155del , CM000668.2:g.136898155del	GRCh38
NC_000006.11:g.137219293del , CM000668.1:g.137219293del	GRCh37
NC_000006.10:g.137260986del	NCBI36
NG_008462.1:g.80576del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.817del MANE Select	ENSP00000315680.3:p.Ser273GlnfsTer20
ENST00000541292.6:c.*82del	ENSP00000441004.1:n.*82del
ENST00000678002.1:c.505del
ENST00000678557.1:c.703del	ENSP00000502962.1:p.Ser235GlnfsTer20
ENST00000679286.1:c.697del	ENSP00000503168.1:p.Ser233GlnfsTer20
ENST00000318471.4:c.817del	ENSP00000315680.3:p.Ser273GlnfsTer20
NM_000288.3:c.817del	NP_000279.1:p.Ser273GlnfsTer20
XM_005267019.3:c.703del	XP_005267076.1:p.Ser235GlnfsTer20
XM_006715502.1:c.523del	XP_006715565.1:p.Ser175GlnfsTer20
XM_011535900.1:c.540del	XP_011534202.1:p.Gln181LysfsTer3
XM_005267019.4:c.703del	XP_005267076.1:p.Ser235GlnfsTer20
XM_006715502.2:c.523del	XP_006715565.1:p.Ser175GlnfsTer20
XM_017010934.2:c.540del	XP_016866423.1:p.Gln181LysfsTer3
NM_000288.4:c.817del MANE Select	NP_000279.1:p.Ser273GlnfsTer20