Canonical Allele Identifier: CA2678796813

Gene: PEX6

Linked Data

• gnomAD v4: 6-42969647-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969651del , CM000668.2:g.42969651del	GRCh38
NC_000006.11:g.42937389del , CM000668.1:g.42937389del	GRCh37
NC_000006.10:g.43045367del	NCBI36
NG_008370.1:g.14596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1367+20del MANE Select	ENSP00000303511.8:n.1367+20del
ENST00000244546.4:c.1367+20del	ENSP00000244546.4:n.1367+20del
ENST00000304611.12:c.1367+20del	ENSP00000303511.8:n.1367+20del
NM_000287.3:c.1367+20del	NP_000278.3:n.1367+20del
NM_001316313.1:c.1103+20del	NP_001303242.1:n.1103+20del
NR_133009.1:n.1460+20del
XM_011514661.1:c.1283+20del	XP_011512963.1:n.1283+20del
XR_926246.1:n.1460+20del
XM_011514661.2:c.1283+20del	XP_011512963.1:n.1283+20del
XR_001743466.2:n.2441+20del
NM_000287.4:c.1367+20del MANE Select	NP_000278.3:n.1367+20del
NM_001316313.2:c.1103+20del	NP_001303242.1:n.1103+20del
NR_133009.2:n.1398+20del