Canonical Allele Identifier: CA913109572

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219280dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898142dup , CM000668.2:g.136898142dup	GRCh38
NC_000006.11:g.137219280dup , CM000668.1:g.137219280dup	GRCh37
NC_000006.10:g.137260973dup	NCBI36
NG_008462.1:g.80563dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.804dup MANE Select	ENSP00000315680.3:p.Phe269IlefsTer8
ENST00000541292.6:c.*69dup	ENSP00000441004.1:n.*69dup
ENST00000678002.1:c.492dup
ENST00000678557.1:c.690dup	ENSP00000502962.1:p.Phe231IlefsTer8
ENST00000679286.1:c.684dup	ENSP00000503168.1:p.Phe229IlefsTer8
ENST00000318471.4:c.804dup	ENSP00000315680.3:p.Phe269IlefsTer8
NM_000288.3:c.804dup	NP_000279.1:p.Phe269IlefsTer8
XM_005267019.3:c.690dup	XP_005267076.1:p.Phe231IlefsTer8
XM_006715502.1:c.510dup	XP_006715565.1:p.Phe171IlefsTer8
XM_011535900.1:c.527dup	XP_011534202.1:p.Asp176GlufsTer?
XM_005267019.4:c.690dup	XP_005267076.1:p.Phe231IlefsTer8
XM_006715502.2:c.510dup	XP_006715565.1:p.Phe171IlefsTer8
XM_017010934.2:c.527dup	XP_016866423.1:p.Asp176GlufsTer?
NM_000288.4:c.804dup MANE Select	NP_000279.1:p.Phe269IlefsTer8