Canonical Allele Identifier: CA3811352

Gene: PEX6

Linked Data

• ClinVar Variation Id: 2737639
• ClinVar RCV Id: RCV003530976
• dbSNP Id: rs770712398
• ExAC: 6:42937380 CACCCTGGGGTGATG / C
• gnomAD v2: 6-42937380-CACCCTGGGGTGATG-C
• gnomAD v4: 6-42969642-CACCCTGGGGTGATG-C
• MyVariant Identifiers: chr6:g.42937381_42937394del (hg19) ; chr6:g.42969643_42969656del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969646_42969659del , CM000668.2:g.42969646_42969659del	GRCh38
NC_000006.11:g.42937384_42937397del , CM000668.1:g.42937384_42937397del	GRCh37
NC_000006.10:g.43045362_43045375del	NCBI36
NG_008370.1:g.14588_14601del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1367+12_1367+25del MANE Select	ENSP00000303511.8:n.1367+12_1367+25del
ENST00000244546.4:c.1367+12_1367+25del	ENSP00000244546.4:n.1367+12_1367+25del
ENST00000304611.12:c.1367+12_1367+25del	ENSP00000303511.8:n.1367+12_1367+25del
NM_000287.3:c.1367+12_1367+25del	NP_000278.3:n.1367+12_1367+25del
NM_001316313.1:c.1103+12_1103+25del	NP_001303242.1:n.1103+12_1103+25del
NR_133009.1:n.1460+12_1460+25del
XM_011514661.1:c.1283+12_1283+25del	XP_011512963.1:n.1283+12_1283+25del
XR_926246.1:n.1460+12_1460+25del
XM_011514661.2:c.1283+12_1283+25del	XP_011512963.1:n.1283+12_1283+25del
XR_001743466.2:n.2441+12_2441+25del
NM_000287.4:c.1367+12_1367+25del MANE Select	NP_000278.3:n.1367+12_1367+25del
NM_001316313.2:c.1103+12_1103+25del	NP_001303242.1:n.1103+12_1103+25del
NR_133009.2:n.1398+12_1398+25del