Canonical Allele Identifier: CA2773213662

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866809_136866815del , CM000668.2:g.136866809_136866815del	GRCh38
NC_000006.11:g.137187947_137187953del , CM000668.1:g.137187947_137187953del	GRCh37
NC_000006.10:g.137229640_137229646del	NCBI36
NG_008462.1:g.49230_49236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.633+76_633+82del MANE Select	ENSP00000315680.3:n.633+76_633+82del
ENST00000541292.6:c.633+76_633+82del	ENSP00000441004.1:n.633+76_633+82del
ENST00000678002.1:c.321+76_321+82del
ENST00000678557.1:c.519+76_519+82del	ENSP00000502962.1:n.519+76_519+82del
ENST00000678593.1:c.638+76_638+82del	ENSP00000503841.1:n.638+76_638+82del
ENST00000679286.1:c.513+76_513+82del	ENSP00000503168.1:n.513+76_513+82del
ENST00000318471.4:c.633+76_633+82del	ENSP00000315680.3:n.633+76_633+82del
ENST00000541292.5:c.633+76_633+82del	ENSP00000441004.1:n.633+76_633+82del
NM_000288.3:c.633+76_633+82del	NP_000279.1:n.633+76_633+82del
XM_005267019.3:c.519+76_519+82del	XP_005267076.1:n.519+76_519+82del
XM_006715502.1:c.340-3081_340-3075del	XP_006715565.1:n.340-3081_340-3075del
XM_011535900.1:c.526+20628_526+20634del	XP_011534202.1:n.526+20628_526+20634del
XM_005267019.4:c.519+76_519+82del	XP_005267076.1:n.519+76_519+82del
XM_006715502.2:c.340-3081_340-3075del	XP_006715565.1:n.340-3081_340-3075del
XM_017010934.2:c.526+20628_526+20634del	XP_016866423.1:n.526+20628_526+20634del
NM_000288.4:c.633+76_633+82del MANE Select	NP_000279.1:n.633+76_633+82del