Canonical Allele Identifier: CA1624312903

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969865_42969866delinsAC , CM000668.2:g.42969865_42969866delinsAC	GRCh38
NC_000006.11:g.42937603_42937604delinsAC , CM000668.1:g.42937603_42937604delinsAC	GRCh37
NC_000006.10:g.43045581_43045582delinsAC	NCBI36
NG_008370.1:g.14378_14379delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1233+19_1233+20delinsGT MANE Select	ENSP00000303511.8:n.1233+19_1233+20delinsGT
ENST00000244546.4:c.1233+19_1233+20delinsGT	ENSP00000244546.4:n.1233+19_1233+20delinsGT
ENST00000304611.12:c.1233+19_1233+20delinsGT	ENSP00000303511.8:n.1233+19_1233+20delinsGT
NM_000287.3:c.1233+19_1233+20delinsGT	NP_000278.3:n.1233+19_1233+20delinsGT
NM_001316313.1:c.969+19_969+20delinsGT	NP_001303242.1:n.969+19_969+20delinsGT
NR_133009.1:n.1326+19_1326+20delinsGT
XM_011514661.1:c.1149+19_1149+20delinsGT	XP_011512963.1:n.1149+19_1149+20delinsGT
XR_926246.1:n.1326+19_1326+20delinsGT
XM_011514661.2:c.1149+19_1149+20delinsGT	XP_011512963.1:n.1149+19_1149+20delinsGT
XR_001743466.2:n.2307+19_2307+20delinsGT
NM_000287.4:c.1233+19_1233+20delinsGT MANE Select	NP_000278.3:n.1233+19_1233+20delinsGT
NM_001316313.2:c.969+19_969+20delinsGT	NP_001303242.1:n.969+19_969+20delinsGT
NR_133009.2:n.1264+19_1264+20delinsGT