Canonical Allele Identifier: CA570744302

Gene: PEX7

Linked Data

• dbSNP Id: rs1491198296
• gnomAD v2: 6-137147185-A-AT
• gnomAD v3: 6-136826047-A-AT
• gnomAD v4: 6-136826047-A-AT
• MyVariant Identifiers: chr6:g.137147185_137147186insT (hg19) ; chr6:g.136826047_136826048insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826048dup , CM000668.2:g.136826048dup	GRCh38
NC_000006.11:g.137147186dup , CM000668.1:g.137147186dup	GRCh37
NC_000006.10:g.137188879dup	NCBI36
NG_008462.1:g.8469dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.189-271dup MANE Select	ENSP00000315680.3:n.189-271dup
ENST00000541292.6:c.189-271dup	ENSP00000441004.1:n.189-271dup
ENST00000678002.1:c.59-266dup
ENST00000678557.1:c.75-271dup	ENSP00000502962.1:n.75-271dup
ENST00000678593.1:c.189-266dup	ENSP00000503841.1:n.189-266dup
ENST00000679286.1:c.69-271dup	ENSP00000503168.1:n.69-271dup
ENST00000318471.4:c.189-271dup	ENSP00000315680.3:n.189-271dup
ENST00000367756.8:c.189-271dup	ENSP00000356730.4:n.189-271dup
ENST00000541292.5:c.189-271dup	ENSP00000441004.1:n.189-271dup
NM_000288.3:c.189-271dup	NP_000279.1:n.189-271dup
XM_005267019.3:c.75-271dup	XP_005267076.1:n.75-271dup
XM_006715502.1:c.189-271dup	XP_006715565.1:n.189-271dup
XM_011535900.1:c.189-271dup	XP_011534202.1:n.189-271dup
XM_005267019.4:c.75-271dup	XP_005267076.1:n.75-271dup
XM_006715502.2:c.189-271dup	XP_006715565.1:n.189-271dup
XM_017010934.2:c.189-271dup	XP_016866423.1:n.189-271dup
NM_000288.4:c.189-271dup MANE Select	NP_000279.1:n.189-271dup