Canonical Allele Identifier: CA2573140747

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965716_42965717delinsTT , CM000668.2:g.42965716_42965717delinsTT	GRCh38
NC_000006.11:g.42933454_42933455delinsTT , CM000668.1:g.42933454_42933455delinsTT	GRCh37
NC_000006.10:g.43041432_43041433delinsTT	NCBI36
NG_008370.1:g.18527_18528delinsAA
NG_008396.1:g.9955_9956delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2435_2436delinsAA MANE Select	NP_000278.3:p.Arg812Gln
ENST00000304611.13:c.2435_2436delinsAA MANE Select	ENSP00000303511.8:p.Arg812Gln
NM_000287.3:c.2435_2436delinsAA	NP_000278.3:p.Arg812Gln
NM_001316313.1:c.2171_2172delinsAA	NP_001303242.1:p.Arg724Gln
NM_001316313.2:c.2171_2172delinsAA	NP_001303242.1:p.Arg724Gln
NR_133009.1:n.2281_2282delinsAA
NR_133009.2:n.2219_2220delinsAA
ENST00000244546.4:c.2188_2189delinsAA	ENSP00000244546.4:p.Gly730Lys
ENST00000304611.12:c.2435_2436delinsAA	ENSP00000303511.8:p.Arg812Gln
XM_011514661.1:c.2351_2352delinsAA	XP_011512963.1:p.Arg784Gln
XM_011514661.2:c.2351_2352delinsAA	XP_011512963.1:p.Arg784Gln
XR_001743466.2:n.3397_3398delinsAA