Canonical Allele Identifier: CA2580074567

Gene: PEX6

Linked Data

• ClinVar Variation Id: 2170597
• ClinVar RCV Id: RCV003080617

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969684_42969685delinsTT , CM000668.2:g.42969684_42969685delinsTT	GRCh38
NC_000006.11:g.42937422_42937423delinsTT , CM000668.1:g.42937422_42937423delinsTT	GRCh37
NC_000006.10:g.43045400_43045401delinsTT	NCBI36
NG_008370.1:g.14559_14560delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1350_1351delinsAA MANE Select	ENSP00000303511.8:p.Pro451Thr
ENST00000244546.4:c.1350_1351delinsAA	ENSP00000244546.4:p.Pro451Thr
ENST00000304611.12:c.1350_1351delinsAA	ENSP00000303511.8:p.Pro451Thr
NM_000287.3:c.1350_1351delinsAA	NP_000278.3:p.Pro451Thr
NM_001316313.1:c.1086_1087delinsAA	NP_001303242.1:p.Pro363Thr
NR_133009.1:n.1443_1444delinsAA
XM_011514661.1:c.1266_1267delinsAA	XP_011512963.1:p.Pro423Thr
XR_926246.1:n.1443_1444delinsAA
XM_011514661.2:c.1266_1267delinsAA	XP_011512963.1:p.Pro423Thr
XR_001743466.2:n.2424_2425delinsAA
NM_000287.4:c.1350_1351delinsAA MANE Select	NP_000278.3:p.Pro451Thr
NM_001316313.2:c.1086_1087delinsAA	NP_001303242.1:p.Pro363Thr
NR_133009.2:n.1381_1382delinsAA