Canonical Allele Identifier: CA645549445

Gene: PEX7

Linked Data

• COSMIC: COSM1642877

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898170_136898171del , CM000668.2:g.136898170_136898171del	GRCh38
NC_000006.11:g.137219308_137219309del , CM000668.1:g.137219308_137219309del	GRCh37
NC_000006.10:g.137261001_137261002del	NCBI36
NG_008462.1:g.80591_80592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.832_833del MANE Select	ENSP00000315680.3:p.Leu278SerfsTer2
ENST00000541292.6:c.*97_*98del	ENSP00000441004.1:n.*97_*98del
ENST00000678002.1:c.520_521del
ENST00000678557.1:c.718_719del	ENSP00000502962.1:p.Leu240SerfsTer2
ENST00000679286.1:c.712_713del	ENSP00000503168.1:p.Leu238SerfsTer2
ENST00000318471.4:c.832_833del	ENSP00000315680.3:p.Leu278SerfsTer2
NM_000288.3:c.832_833del	NP_000279.1:p.Leu278SerfsTer2
XM_005267019.3:c.718_719del	XP_005267076.1:p.Leu240SerfsTer2
XM_006715502.1:c.538_539del	XP_006715565.1:p.Leu180SerfsTer2
XM_011535900.1:c.555_556del	XP_011534202.1:p.Phe186LeufsTer?
XM_005267019.4:c.718_719del	XP_005267076.1:p.Leu240SerfsTer2
XM_006715502.2:c.538_539del	XP_006715565.1:p.Leu180SerfsTer2
XM_017010934.2:c.555_556del	XP_016866423.1:p.Phe186LeufsTer?
NM_000288.4:c.832_833del MANE Select	NP_000279.1:p.Leu278SerfsTer2