Canonical Allele Identifier: CA16041020

Gene: PEX7

Linked Data

• ClinVar Variation Id: 370864
• ClinVar RCV Id: RCV000410971
• dbSNP Id: rs1057516824
• MyVariant Identifiers: chr6:g.137193362_137193372del (hg19) ; chr6:g.136872224_136872234del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872224_136872234del , CM000668.2:g.136872224_136872234del	GRCh38
NC_000006.11:g.137193362_137193372del , CM000668.1:g.137193362_137193372del	GRCh37
NC_000006.10:g.137235055_137235065del	NCBI36
NG_008462.1:g.54645_54655del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.774_784del MANE Select	ENSP00000315680.3:p.Ala259ValfsTer2
ENST00000541292.6:c.*39_*49del	ENSP00000441004.1:n.*39_*49del
ENST00000678002.1:c.462_472del
ENST00000678557.1:c.660_670del	ENSP00000502962.1:p.Ala221ValfsTer2
ENST00000678593.1:c.779_789del	ENSP00000503841.1:n.779_789del
ENST00000679286.1:c.654_664del	ENSP00000503168.1:p.Ala219ValfsTer2
ENST00000318471.4:c.774_784del	ENSP00000315680.3:p.Ala259ValfsTer2
NM_000288.3:c.774_784del	NP_000279.1:p.Ala259ValfsTer2
XM_005267019.3:c.660_670del	XP_005267076.1:p.Ala221ValfsTer2
XM_006715502.1:c.480_490del	XP_006715565.1:p.Ala161ValfsTer2
XM_011535900.1:c.527-25918_527-25908del	XP_011534202.1:n.527-25918_527-25908del
XM_005267019.4:c.660_670del	XP_005267076.1:p.Ala221ValfsTer2
XM_006715502.2:c.480_490del	XP_006715565.1:p.Ala161ValfsTer2
XM_017010934.2:c.527-25918_527-25908del	XP_016866423.1:n.527-25918_527-25908del
NM_000288.4:c.774_784del MANE Select	NP_000279.1:p.Ala259ValfsTer2