Canonical Allele Identifier: CA2770830014

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969448_42969616del , CM000668.2:g.42969448_42969616del	GRCh38
NC_000006.11:g.42937186_42937354del , CM000668.1:g.42937186_42937354del	GRCh37
NC_000006.10:g.43045164_43045332del	NCBI36
NG_008370.1:g.14636_14804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1367+60_1367+228del MANE Select	ENSP00000303511.8:n.1367+60_1367+228del
ENST00000244546.4:c.1367+60_1367+228del	ENSP00000244546.4:n.1367+60_1367+228del
ENST00000304611.12:c.1367+60_1367+228del	ENSP00000303511.8:n.1367+60_1367+228del
NM_000287.3:c.1367+60_1367+228del	NP_000278.3:n.1367+60_1367+228del
NM_001316313.1:c.1103+60_1103+228del	NP_001303242.1:n.1103+60_1103+228del
NR_133009.1:n.1460+60_1460+228del
XM_011514661.1:c.1283+60_1283+228del	XP_011512963.1:n.1283+60_1283+228del
XR_926246.1:n.1460+60_1460+228del
XM_011514661.2:c.1283+60_1283+228del	XP_011512963.1:n.1283+60_1283+228del
XR_001743466.2:n.2441+60_2441+228del
NM_000287.4:c.1367+60_1367+228del MANE Select	NP_000278.3:n.1367+60_1367+228del
NM_001316313.2:c.1103+60_1103+228del	NP_001303242.1:n.1103+60_1103+228del
NR_133009.2:n.1398+60_1398+228del