Canonical Allele Identifier: CA1624312674

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969733_42969734delinsAG , CM000668.2:g.42969733_42969734delinsAG	GRCh38
NC_000006.11:g.42937471_42937472delinsAG , CM000668.1:g.42937471_42937472delinsAG	GRCh37
NC_000006.10:g.43045449_43045450delinsAG	NCBI36
NG_008370.1:g.14510_14511delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1301_1302delinsCT MANE Select	ENSP00000303511.8:p.Ser434=
ENST00000244546.4:c.1301_1302delinsCT	ENSP00000244546.4:p.Ser434=
ENST00000304611.12:c.1301_1302delinsCT	ENSP00000303511.8:p.Ser434=
NM_000287.3:c.1301_1302delinsCT	NP_000278.3:p.Ser434=
NM_001316313.1:c.1037_1038delinsCT	NP_001303242.1:p.Ser346=
NR_133009.1:n.1394_1395delinsCT
XM_011514661.1:c.1217_1218delinsCT	XP_011512963.1:p.Ser406=
XR_926246.1:n.1394_1395delinsCT
XM_011514661.2:c.1217_1218delinsCT	XP_011512963.1:p.Ser406=
XR_001743466.2:n.2375_2376delinsCT
NM_000287.4:c.1301_1302delinsCT MANE Select	NP_000278.3:p.Ser434=
NM_001316313.2:c.1037_1038delinsCT	NP_001303242.1:p.Ser346=
NR_133009.2:n.1332_1333delinsCT