Canonical Allele Identifier: CA138227607

Gene: PEX6

Linked Data

• dbSNP Id: rs61753222
• MyVariant Identifiers: chr6:g.42937453_42937459del (hg19) ; chr6:g.42969715_42969721del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969715_42969721del , CM000668.2:g.42969715_42969721del	GRCh38
NC_000006.11:g.42937453_42937459del , CM000668.1:g.42937453_42937459del	GRCh37
NC_000006.10:g.43045431_43045437del	NCBI36
NG_008370.1:g.14523_14529del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1314_1320del MANE Select	ENSP00000303511.8:p.Glu439TrpfsTer9
ENST00000244546.4:c.1314_1320del	ENSP00000244546.4:p.Glu439TrpfsTer9
ENST00000304611.12:c.1314_1320del	ENSP00000303511.8:p.Glu439TrpfsTer9
NM_000287.3:c.1314_1320del	NP_000278.3:p.Glu439TrpfsTer9
NM_001316313.1:c.1050_1056del	NP_001303242.1:p.Glu351TrpfsTer9
NR_133009.1:n.1407_1413del
XM_011514661.1:c.1230_1236del	XP_011512963.1:p.Glu411TrpfsTer9
XR_926246.1:n.1407_1413del
XM_011514661.2:c.1230_1236del	XP_011512963.1:p.Glu411TrpfsTer9
XR_001743466.2:n.2388_2394del
NM_000287.4:c.1314_1320del MANE Select	NP_000278.3:p.Glu439TrpfsTer9
NM_001316313.2:c.1050_1056del	NP_001303242.1:p.Glu351TrpfsTer9
NR_133009.2:n.1345_1351del