Canonical Allele Identifier: CA2695198357

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2677730
• ClinVar RCV Id: RCV003476864

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136870003del , CM000668.2:g.136870003del	GRCh38
NC_000006.11:g.137191141del , CM000668.1:g.137191141del	GRCh37
NC_000006.10:g.137232834del	NCBI36
NG_008462.1:g.52424del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.747del MANE Select	ENSP00000315680.3:p.Lys249AsnfsTer19
ENST00000541292.6:c.747del	ENSP00000441004.1:p.Met250TrpfsTer?
ENST00000678002.1:c.435del
ENST00000678557.1:c.633del	ENSP00000502962.1:p.Lys211AsnfsTer19
ENST00000678593.1:c.752del	ENSP00000503841.1:n.752del
ENST00000679286.1:c.627del	ENSP00000503168.1:p.Lys209AsnfsTer19
ENST00000318471.4:c.747del	ENSP00000315680.3:p.Lys249AsnfsTer19
ENST00000541292.5:c.747del	ENSP00000441004.1:p.Met250TrpfsTer?
NM_000288.3:c.747del	NP_000279.1:p.Lys249AsnfsTer19
XM_005267019.3:c.633del	XP_005267076.1:p.Lys211AsnfsTer19
XM_006715502.1:c.453del	XP_006715565.1:p.Lys151AsnfsTer19
XM_011535900.1:c.526+23822del	XP_011534202.1:n.526+23822del
XM_005267019.4:c.633del	XP_005267076.1:p.Lys211AsnfsTer19
XM_006715502.2:c.453del	XP_006715565.1:p.Lys151AsnfsTer19
XM_017010934.2:c.526+23822del	XP_016866423.1:n.526+23822del
NM_000288.4:c.747del MANE Select	NP_000279.1:p.Lys249AsnfsTer19