Canonical Allele Identifier: CA1624312613

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969712_42969713delinsCA , CM000668.2:g.42969712_42969713delinsCA	GRCh38
NC_000006.11:g.42937450_42937451delinsCA , CM000668.1:g.42937450_42937451delinsCA	GRCh37
NC_000006.10:g.43045428_43045429delinsCA	NCBI36
NG_008370.1:g.14531_14532delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1322_1323delinsTG MANE Select	ENSP00000303511.8:p.Leu441=
ENST00000244546.4:c.1322_1323delinsTG	ENSP00000244546.4:p.Leu441=
ENST00000304611.12:c.1322_1323delinsTG	ENSP00000303511.8:p.Leu441=
NM_000287.3:c.1322_1323delinsTG	NP_000278.3:p.Leu441=
NM_001316313.1:c.1058_1059delinsTG	NP_001303242.1:p.Leu353=
NR_133009.1:n.1415_1416delinsTG
XM_011514661.1:c.1238_1239delinsTG	XP_011512963.1:p.Leu413=
XR_926246.1:n.1415_1416delinsTG
XM_011514661.2:c.1238_1239delinsTG	XP_011512963.1:p.Leu413=
XR_001743466.2:n.2396_2397delinsTG
NM_000287.4:c.1322_1323delinsTG MANE Select	NP_000278.3:p.Leu441=
NM_001316313.2:c.1058_1059delinsTG	NP_001303242.1:p.Leu353=
NR_133009.2:n.1353_1354delinsTG