Canonical Allele Identifier: CA2770830027

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969786_42969792del , CM000668.2:g.42969786_42969792del	GRCh38
NC_000006.11:g.42937524_42937530del , CM000668.1:g.42937524_42937530del	GRCh37
NC_000006.10:g.43045502_43045508del	NCBI36
NG_008370.1:g.14452_14458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1243_1249del MANE Select	ENSP00000303511.8:p.Thr415AlafsTer?
ENST00000244546.4:c.1243_1249del	ENSP00000244546.4:p.Thr415AlafsTer?
ENST00000304611.12:c.1243_1249del	ENSP00000303511.8:p.Thr415AlafsTer?
NM_000287.3:c.1243_1249del	NP_000278.3:p.Thr415AlafsTer?
NM_001316313.1:c.979_985del	NP_001303242.1:p.Thr327AlafsTer?
NR_133009.1:n.1336_1342del
XM_011514661.1:c.1159_1165del	XP_011512963.1:p.Thr387AlafsTer?
XR_926246.1:n.1336_1342del
XM_011514661.2:c.1159_1165del	XP_011512963.1:p.Thr387AlafsTer?
XR_001743466.2:n.2317_2323del
NM_000287.4:c.1243_1249del MANE Select	NP_000278.3:p.Thr415AlafsTer?
NM_001316313.2:c.979_985del	NP_001303242.1:p.Thr327AlafsTer?
NR_133009.2:n.1274_1280del