Canonical Allele Identifier: CA2711476819

Gene: PEX6

Linked Data

• dbSNP Id: rs200121485

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969808_42969809del , CM000668.2:g.42969808_42969809del	GRCh38
NC_000006.11:g.42937546_42937547del , CM000668.1:g.42937546_42937547del	GRCh37
NC_000006.10:g.43045524_43045525del	NCBI36
NG_008370.1:g.14436_14437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1234-7_1234-6del MANE Select	ENSP00000303511.8:n.1234-7_1234-6del
ENST00000244546.4:c.1234-7_1234-6del	ENSP00000244546.4:n.1234-7_1234-6del
ENST00000304611.12:c.1234-7_1234-6del	ENSP00000303511.8:n.1234-7_1234-6del
NM_000287.3:c.1234-7_1234-6del	NP_000278.3:n.1234-7_1234-6del
NM_001316313.1:c.970-7_970-6del	NP_001303242.1:n.970-7_970-6del
NR_133009.1:n.1327-7_1327-6del
XM_011514661.1:c.1150-7_1150-6del	XP_011512963.1:n.1150-7_1150-6del
XR_926246.1:n.1327-7_1327-6del
XM_011514661.2:c.1150-7_1150-6del	XP_011512963.1:n.1150-7_1150-6del
XR_001743466.2:n.2308-7_2308-6del
NM_000287.4:c.1234-7_1234-6del MANE Select	NP_000278.3:n.1234-7_1234-6del
NM_001316313.2:c.970-7_970-6del	NP_001303242.1:n.970-7_970-6del
NR_133009.2:n.1265-7_1265-6del