Canonical Allele Identifier: CA2773216344

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898366_136898369del , CM000668.2:g.136898366_136898369del	GRCh38
NC_000006.11:g.137219504_137219507del , CM000668.1:g.137219504_137219507del	GRCh37
NC_000006.10:g.137261197_137261200del	NCBI36
NG_008462.1:g.80787_80790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.903+125_903+128del MANE Select	ENSP00000315680.3:n.903+125_903+128del
ENST00000541292.6:c.*168+125_*168+128del	ENSP00000441004.1:n.*168+125_*168+128del
ENST00000678002.1:c.591+125_591+128del
ENST00000678557.1:c.789+125_789+128del	ENSP00000502962.1:n.789+125_789+128del
ENST00000679286.1:c.783+125_783+128del	ENSP00000503168.1:n.783+125_783+128del
ENST00000318471.4:c.903+125_903+128del	ENSP00000315680.3:n.903+125_903+128del
NM_000288.3:c.903+125_903+128del	NP_000279.1:n.903+125_903+128del
XM_005267019.3:c.789+125_789+128del	XP_005267076.1:n.789+125_789+128del
XM_006715502.1:c.609+125_609+128del	XP_006715565.1:n.609+125_609+128del
XM_005267019.4:c.789+125_789+128del	XP_005267076.1:n.789+125_789+128del
XM_006715502.2:c.609+125_609+128del	XP_006715565.1:n.609+125_609+128del
XM_017010934.2:c.*26+125_*26+128del	XP_016866423.1:n.*26+125_*26+128del
NM_000288.4:c.903+125_903+128del MANE Select	NP_000279.1:n.903+125_903+128del