Canonical Allele Identifier: CA2773214691

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872360_136872361del , CM000668.2:g.136872360_136872361del	GRCh38
NC_000006.11:g.137193498_137193499del , CM000668.1:g.137193498_137193499del	GRCh37
NC_000006.10:g.137235191_137235192del	NCBI36
NG_008462.1:g.54781_54782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+107_803+108del MANE Select	ENSP00000315680.3:n.803+107_803+108del
ENST00000541292.6:c.*68+107_*68+108del	ENSP00000441004.1:n.*68+107_*68+108del
ENST00000678002.1:c.491+107_491+108del
ENST00000678557.1:c.689+107_689+108del	ENSP00000502962.1:n.689+107_689+108del
ENST00000678593.1:c.915_916del	ENSP00000503841.1:n.915_916del
ENST00000679286.1:c.683+107_683+108del	ENSP00000503168.1:n.683+107_683+108del
ENST00000318471.4:c.803+107_803+108del	ENSP00000315680.3:n.803+107_803+108del
NM_000288.3:c.803+107_803+108del	NP_000279.1:n.803+107_803+108del
XM_005267019.3:c.689+107_689+108del	XP_005267076.1:n.689+107_689+108del
XM_006715502.1:c.509+107_509+108del	XP_006715565.1:n.509+107_509+108del
XM_011535900.1:c.527-25782_527-25781del	XP_011534202.1:n.527-25782_527-25781del
XM_005267019.4:c.689+107_689+108del	XP_005267076.1:n.689+107_689+108del
XM_006715502.2:c.509+107_509+108del	XP_006715565.1:n.509+107_509+108del
XM_017010934.2:c.527-25782_527-25781del	XP_016866423.1:n.527-25782_527-25781del
NM_000288.4:c.803+107_803+108del MANE Select	NP_000279.1:n.803+107_803+108del