Canonical Allele Identifier: CA2695198829

Gene: PEX6

Linked Data

• ClinVar Variation Id: 2677715
• ClinVar RCV Id: RCV003476849

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969799del , CM000668.2:g.42969799del	GRCh38
NC_000006.11:g.42937537del , CM000668.1:g.42937537del	GRCh37
NC_000006.10:g.43045515del	NCBI36
NG_008370.1:g.14447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1238del MANE Select	ENSP00000303511.8:p.Gly413ValfsTer4
ENST00000244546.4:c.1238del	ENSP00000244546.4:p.Gly413ValfsTer4
ENST00000304611.12:c.1238del	ENSP00000303511.8:p.Gly413ValfsTer4
NM_000287.3:c.1238del	NP_000278.3:p.Gly413ValfsTer4
NM_001316313.1:c.974del	NP_001303242.1:p.Gly325ValfsTer4
NR_133009.1:n.1331del
XM_011514661.1:c.1154del	XP_011512963.1:p.Gly385ValfsTer4
XR_926246.1:n.1331del
XM_011514661.2:c.1154del	XP_011512963.1:p.Gly385ValfsTer4
XR_001743466.2:n.2312del
NM_000287.4:c.1238del MANE Select	NP_000278.3:p.Gly413ValfsTer4
NM_001316313.2:c.974del	NP_001303242.1:p.Gly325ValfsTer4
NR_133009.2:n.1269del