Canonical Allele Identifier: CA138227591

Gene: PEX6

Linked Data

• dbSNP Id: rs1046206208
• gnomAD v3: 6-42969712-CA-C
• gnomAD v4: 6-42969712-CA-C
• MyVariant Identifiers: chr6:g.42937451del (hg19) ; chr6:g.42969713del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969714del , CM000668.2:g.42969714del	GRCh38
NC_000006.11:g.42937452del , CM000668.1:g.42937452del	GRCh37
NC_000006.10:g.43045430del	NCBI36
NG_008370.1:g.14531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1322del MANE Select	ENSP00000303511.8:p.Leu441TrpfsTer9
ENST00000244546.4:c.1322del	ENSP00000244546.4:p.Leu441TrpfsTer9
ENST00000304611.12:c.1322del	ENSP00000303511.8:p.Leu441TrpfsTer9
NM_000287.3:c.1322del	NP_000278.3:p.Leu441TrpfsTer9
NM_001316313.1:c.1058del	NP_001303242.1:p.Leu353TrpfsTer9
NR_133009.1:n.1415del
XM_011514661.1:c.1238del	XP_011512963.1:p.Leu413TrpfsTer9
XR_926246.1:n.1415del
XM_011514661.2:c.1238del	XP_011512963.1:p.Leu413TrpfsTer9
XR_001743466.2:n.2396del
NM_000287.4:c.1322del MANE Select	NP_000278.3:p.Leu441TrpfsTer9
NM_001316313.2:c.1058del	NP_001303242.1:p.Leu353TrpfsTer9
NR_133009.2:n.1353del