Canonical Allele Identifier: CA1624312695

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969747_42969748delinsAG , CM000668.2:g.42969747_42969748delinsAG	GRCh38
NC_000006.11:g.42937485_42937486delinsAG , CM000668.1:g.42937485_42937486delinsAG	GRCh37
NC_000006.10:g.43045463_43045464delinsAG	NCBI36
NG_008370.1:g.14496_14497delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1287_1288delinsCT MANE Select	ENSP00000303511.8:p.Leu429=
ENST00000244546.4:c.1287_1288delinsCT	ENSP00000244546.4:p.Leu429=
ENST00000304611.12:c.1287_1288delinsCT	ENSP00000303511.8:p.Leu429=
NM_000287.3:c.1287_1288delinsCT	NP_000278.3:p.Leu429=
NM_001316313.1:c.1023_1024delinsCT	NP_001303242.1:p.Leu341=
NR_133009.1:n.1380_1381delinsCT
XM_011514661.1:c.1203_1204delinsCT	XP_011512963.1:p.Leu401=
XR_926246.1:n.1380_1381delinsCT
XM_011514661.2:c.1203_1204delinsCT	XP_011512963.1:p.Leu401=
XR_001743466.2:n.2361_2362delinsCT
NM_000287.4:c.1287_1288delinsCT MANE Select	NP_000278.3:p.Leu429=
NM_001316313.2:c.1023_1024delinsCT	NP_001303242.1:p.Leu341=
NR_133009.2:n.1318_1319delinsCT