Canonical Allele Identifier: CA4017764

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1082527
• ClinVar RCV Id: RCV001398869
• dbSNP Id: rs777087989
• ExAC: 6:137193400 G / GT
• gnomAD v2: 6-137193400-G-GT
• gnomAD v3: 6-136872262-G-GT
• gnomAD v4: 6-136872262-G-GT
• MyVariant Identifiers: chr6:g.137193400_137193401insT (hg19) ; chr6:g.136872262_136872263insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872267dup , CM000668.2:g.136872267dup	GRCh38
NC_000006.11:g.137193405dup , CM000668.1:g.137193405dup	GRCh37
NC_000006.10:g.137235098dup	NCBI36
NG_008462.1:g.54688dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+14dup MANE Select	ENSP00000315680.3:n.803+14dup
ENST00000541292.6:c.*68+14dup	ENSP00000441004.1:n.*68+14dup
ENST00000678002.1:c.491+14dup
ENST00000678557.1:c.689+14dup	ENSP00000502962.1:n.689+14dup
ENST00000678593.1:c.822dup	ENSP00000503841.1:n.822dup
ENST00000679286.1:c.683+14dup	ENSP00000503168.1:n.683+14dup
ENST00000318471.4:c.803+14dup	ENSP00000315680.3:n.803+14dup
NM_000288.3:c.803+14dup	NP_000279.1:n.803+14dup
XM_005267019.3:c.689+14dup	XP_005267076.1:n.689+14dup
XM_006715502.1:c.509+14dup	XP_006715565.1:n.509+14dup
XM_011535900.1:c.527-25875dup	XP_011534202.1:n.527-25875dup
XM_005267019.4:c.689+14dup	XP_005267076.1:n.689+14dup
XM_006715502.2:c.509+14dup	XP_006715565.1:n.509+14dup
XM_017010934.2:c.527-25875dup	XP_016866423.1:n.527-25875dup
NM_000288.4:c.803+14dup MANE Select	NP_000279.1:n.803+14dup