Canonical Allele Identifier: CA2678796847

Gene: PEX6

Linked Data

• gnomAD v4: 6-42969885-CATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969886_42969888del , CM000668.2:g.42969886_42969888del	GRCh38
NC_000006.11:g.42937624_42937626del , CM000668.1:g.42937624_42937626del	GRCh37
NC_000006.10:g.43045602_43045604del	NCBI36
NG_008370.1:g.14356_14358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1230_1232del MANE Select	ENSP00000303511.8:p.Tyr410Ter
ENST00000244546.4:c.1230_1232del	ENSP00000244546.4:p.Tyr410Ter
ENST00000304611.12:c.1230_1232del	ENSP00000303511.8:p.Tyr410Ter
NM_000287.3:c.1230_1232del	NP_000278.3:p.Tyr410Ter
NM_001316313.1:c.966_968del	NP_001303242.1:p.Tyr322Ter
NR_133009.1:n.1323_1325del
XM_011514661.1:c.1146_1148del	XP_011512963.1:p.Tyr382Ter
XR_926246.1:n.1323_1325del
XM_011514661.2:c.1146_1148del	XP_011512963.1:p.Tyr382Ter
XR_001743466.2:n.2304_2306del
NM_000287.4:c.1230_1232del MANE Select	NP_000278.3:p.Tyr410Ter
NM_001316313.2:c.966_968del	NP_001303242.1:p.Tyr322Ter
NR_133009.2:n.1261_1263del