Canonical Allele Identifier: CA2773214789

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872422_136872427del , CM000668.2:g.136872422_136872427del	GRCh38
NC_000006.11:g.137193560_137193565del , CM000668.1:g.137193560_137193565del	GRCh37
NC_000006.10:g.137235253_137235258del	NCBI36
NG_008462.1:g.54843_54848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+169_803+174del MANE Select	ENSP00000315680.3:n.803+169_803+174del
ENST00000541292.6:c.*68+169_*68+174del	ENSP00000441004.1:n.*68+169_*68+174del
ENST00000678002.1:c.491+169_491+174del
ENST00000678557.1:c.689+169_689+174del	ENSP00000502962.1:n.689+169_689+174del
ENST00000678593.1:c.977_982del	ENSP00000503841.1:n.977_982del
ENST00000679286.1:c.683+169_683+174del	ENSP00000503168.1:n.683+169_683+174del
ENST00000318471.4:c.803+169_803+174del	ENSP00000315680.3:n.803+169_803+174del
NM_000288.3:c.803+169_803+174del	NP_000279.1:n.803+169_803+174del
XM_005267019.3:c.689+169_689+174del	XP_005267076.1:n.689+169_689+174del
XM_006715502.1:c.509+169_509+174del	XP_006715565.1:n.509+169_509+174del
XM_011535900.1:c.527-25720_527-25715del	XP_011534202.1:n.527-25720_527-25715del
XM_005267019.4:c.689+169_689+174del	XP_005267076.1:n.689+169_689+174del
XM_006715502.2:c.509+169_509+174del	XP_006715565.1:n.509+169_509+174del
XM_017010934.2:c.527-25720_527-25715del	XP_016866423.1:n.527-25720_527-25715del
NM_000288.4:c.803+169_803+174del MANE Select	NP_000279.1:n.803+169_803+174del