Canonical Allele Identifier: CA2573140766

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1644091
• ClinVar RCV Id: RCV002146032
• dbSNP Id: rs2114247320

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969659del , CM000668.2:g.42969659del	GRCh38
NC_000006.11:g.42937397del , CM000668.1:g.42937397del	GRCh37
NC_000006.10:g.43045375del	NCBI36
NG_008370.1:g.14586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1367+10del MANE Select	ENSP00000303511.8:n.1367+10del
ENST00000244546.4:c.1367+10del	ENSP00000244546.4:n.1367+10del
ENST00000304611.12:c.1367+10del	ENSP00000303511.8:n.1367+10del
NM_000287.3:c.1367+10del	NP_000278.3:n.1367+10del
NM_001316313.1:c.1103+10del	NP_001303242.1:n.1103+10del
NR_133009.1:n.1460+10del
XM_011514661.1:c.1283+10del	XP_011512963.1:n.1283+10del
XR_926246.1:n.1460+10del
XM_011514661.2:c.1283+10del	XP_011512963.1:n.1283+10del
XR_001743466.2:n.2441+10del
NM_000287.4:c.1367+10del MANE Select	NP_000278.3:n.1367+10del
NM_001316313.2:c.1103+10del	NP_001303242.1:n.1103+10del
NR_133009.2:n.1398+10del