Canonical Allele Identifier: CA4017521

Gene: PEX7

Linked Data

• dbSNP Id: rs767961732
• ExAC: 6:137147425 A / AT
• gnomAD v2: 6-137147425-A-AT
• gnomAD v3: 6-136826287-A-AT
• gnomAD v4: 6-136826287-A-AT
• MyVariant Identifiers: chr6:g.137147425_137147426insT (hg19) ; chr6:g.136826287_136826288insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826294dup , CM000668.2:g.136826294dup	GRCh38
NC_000006.11:g.137147432dup , CM000668.1:g.137147432dup	GRCh37
NC_000006.10:g.137189125dup	NCBI36
NG_008462.1:g.8715dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.189-25dup MANE Select	ENSP00000315680.3:n.189-25dup
ENST00000541292.6:c.189-25dup	ENSP00000441004.1:n.189-25dup
ENST00000678002.1:c.59-20dup
ENST00000678557.1:c.75-25dup	ENSP00000502962.1:n.75-25dup
ENST00000678593.1:c.189-20dup	ENSP00000503841.1:n.189-20dup
ENST00000679286.1:c.69-25dup	ENSP00000503168.1:n.69-25dup
ENST00000318471.4:c.189-25dup	ENSP00000315680.3:n.189-25dup
ENST00000367756.8:c.189-25dup	ENSP00000356730.4:n.189-25dup
ENST00000541292.5:c.189-25dup	ENSP00000441004.1:n.189-25dup
NM_000288.3:c.189-25dup	NP_000279.1:n.189-25dup
XM_005267019.3:c.75-25dup	XP_005267076.1:n.75-25dup
XM_006715502.1:c.189-25dup	XP_006715565.1:n.189-25dup
XM_011535900.1:c.189-25dup	XP_011534202.1:n.189-25dup
XM_005267019.4:c.75-25dup	XP_005267076.1:n.75-25dup
XM_006715502.2:c.189-25dup	XP_006715565.1:n.189-25dup
XM_017010934.2:c.189-25dup	XP_016866423.1:n.189-25dup
NM_000288.4:c.189-25dup MANE Select	NP_000279.1:n.189-25dup