Canonical Allele Identifier: CA2773213669

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866811_136866814del , CM000668.2:g.136866811_136866814del	GRCh38
NC_000006.11:g.137187949_137187952del , CM000668.1:g.137187949_137187952del	GRCh37
NC_000006.10:g.137229642_137229645del	NCBI36
NG_008462.1:g.49232_49235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.633+78_633+81del MANE Select	ENSP00000315680.3:n.633+78_633+81del
ENST00000541292.6:c.633+78_633+81del	ENSP00000441004.1:n.633+78_633+81del
ENST00000678002.1:c.321+78_321+81del
ENST00000678557.1:c.519+78_519+81del	ENSP00000502962.1:n.519+78_519+81del
ENST00000678593.1:c.638+78_638+81del	ENSP00000503841.1:n.638+78_638+81del
ENST00000679286.1:c.513+78_513+81del	ENSP00000503168.1:n.513+78_513+81del
ENST00000318471.4:c.633+78_633+81del	ENSP00000315680.3:n.633+78_633+81del
ENST00000541292.5:c.633+78_633+81del	ENSP00000441004.1:n.633+78_633+81del
NM_000288.3:c.633+78_633+81del	NP_000279.1:n.633+78_633+81del
XM_005267019.3:c.519+78_519+81del	XP_005267076.1:n.519+78_519+81del
XM_006715502.1:c.340-3079_340-3076del	XP_006715565.1:n.340-3079_340-3076del
XM_011535900.1:c.526+20630_526+20633del	XP_011534202.1:n.526+20630_526+20633del
XM_005267019.4:c.519+78_519+81del	XP_005267076.1:n.519+78_519+81del
XM_006715502.2:c.340-3079_340-3076del	XP_006715565.1:n.340-3079_340-3076del
XM_017010934.2:c.526+20630_526+20633del	XP_016866423.1:n.526+20630_526+20633del
NM_000288.4:c.633+78_633+81del MANE Select	NP_000279.1:n.633+78_633+81del