Canonical Allele Identifier: CA658653775

Gene: PEX6

Linked Data

• ClinVar Variation Id: 446026
• ClinVar RCV Id: RCV000514917 ; RCV001231241 ; RCV004551655 ; RCV001276617 ; RCV003476210
• dbSNP Id: rs1258472160
• gnomAD v3: 6-42969747-AG-A
• gnomAD v4: 6-42969747-AG-A
• MyVariant Identifiers: chr6:g.42937486del (hg19) ; chr6:g.42969748del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969748del , CM000668.2:g.42969748del	GRCh38
NC_000006.11:g.42937486del , CM000668.1:g.42937486del	GRCh37
NC_000006.10:g.43045464del	NCBI36
NG_008370.1:g.14496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1287del MANE Select	ENSP00000303511.8:p.Trp430GlyfsTer20
ENST00000244546.4:c.1287del	ENSP00000244546.4:p.Trp430GlyfsTer20
ENST00000304611.12:c.1287del	ENSP00000303511.8:p.Trp430GlyfsTer20
NM_000287.3:c.1287del	NP_000278.3:p.Trp430GlyfsTer20
NM_001316313.1:c.1023del	NP_001303242.1:p.Trp342GlyfsTer20
NR_133009.1:n.1380del
XM_011514661.1:c.1203del	XP_011512963.1:p.Trp402GlyfsTer20
XR_926246.1:n.1380del
XM_011514661.2:c.1203del	XP_011512963.1:p.Trp402GlyfsTer20
XR_001743466.2:n.2361del
NM_000287.4:c.1287del MANE Select	NP_000278.3:p.Trp430GlyfsTer20
NM_001316313.2:c.1023del	NP_001303242.1:p.Trp342GlyfsTer20
NR_133009.2:n.1318del