Canonical Allele Identifier: CA3811351

Gene: PEX6

Linked Data

• dbSNP Id: rs746760742
• ExAC: 6:42937363 T / TA
• gnomAD v2: 6-42937363-T-TA
• gnomAD v4: 6-42969625-T-TA
• MyVariant Identifiers: chr6:g.42937363_42937364insA (hg19) ; chr6:g.42969625_42969626insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969627dup , CM000668.2:g.42969627dup	GRCh38
NC_000006.11:g.42937365dup , CM000668.1:g.42937365dup	GRCh37
NC_000006.10:g.43045343dup	NCBI36
NG_008370.1:g.14618dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1367+42dup MANE Select	ENSP00000303511.8:n.1367+42dup
ENST00000244546.4:c.1367+42dup	ENSP00000244546.4:n.1367+42dup
ENST00000304611.12:c.1367+42dup	ENSP00000303511.8:n.1367+42dup
NM_000287.3:c.1367+42dup	NP_000278.3:n.1367+42dup
NM_001316313.1:c.1103+42dup	NP_001303242.1:n.1103+42dup
NR_133009.1:n.1460+42dup
XM_011514661.1:c.1283+42dup	XP_011512963.1:n.1283+42dup
XR_926246.1:n.1460+42dup
XM_011514661.2:c.1283+42dup	XP_011512963.1:n.1283+42dup
XR_001743466.2:n.2441+42dup
NM_000287.4:c.1367+42dup MANE Select	NP_000278.3:n.1367+42dup
NM_001316313.2:c.1103+42dup	NP_001303242.1:n.1103+42dup
NR_133009.2:n.1398+42dup