Canonical Allele Identifier: CA2773214751

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872388_136872389del , CM000668.2:g.136872388_136872389del	GRCh38
NC_000006.11:g.137193526_137193527del , CM000668.1:g.137193526_137193527del	GRCh37
NC_000006.10:g.137235219_137235220del	NCBI36
NG_008462.1:g.54809_54810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+135_803+136del MANE Select	ENSP00000315680.3:n.803+135_803+136del
ENST00000541292.6:c.*68+135_*68+136del	ENSP00000441004.1:n.*68+135_*68+136del
ENST00000678002.1:c.491+135_491+136del
ENST00000678557.1:c.689+135_689+136del	ENSP00000502962.1:n.689+135_689+136del
ENST00000678593.1:c.943_944del	ENSP00000503841.1:n.943_944del
ENST00000679286.1:c.683+135_683+136del	ENSP00000503168.1:n.683+135_683+136del
ENST00000318471.4:c.803+135_803+136del	ENSP00000315680.3:n.803+135_803+136del
NM_000288.3:c.803+135_803+136del	NP_000279.1:n.803+135_803+136del
XM_005267019.3:c.689+135_689+136del	XP_005267076.1:n.689+135_689+136del
XM_006715502.1:c.509+135_509+136del	XP_006715565.1:n.509+135_509+136del
XM_011535900.1:c.527-25754_527-25753del	XP_011534202.1:n.527-25754_527-25753del
XM_005267019.4:c.689+135_689+136del	XP_005267076.1:n.689+135_689+136del
XM_006715502.2:c.509+135_509+136del	XP_006715565.1:n.509+135_509+136del
XM_017010934.2:c.527-25754_527-25753del	XP_016866423.1:n.527-25754_527-25753del
NM_000288.4:c.803+135_803+136del MANE Select	NP_000279.1:n.803+135_803+136del