Canonical Allele Identifier: CA2580075083

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1726323
• ClinVar RCV Id: RCV002307294

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822787_136822788del , CM000668.2:g.136822787_136822788del	GRCh38
NC_000006.11:g.137143925_137143926del , CM000668.1:g.137143925_137143926del	GRCh37
NC_000006.10:g.137185618_137185619del	NCBI36
NG_008462.1:g.5208_5209del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.122_123del MANE Select	ENSP00000315680.3:p.Gly41AspfsTer14
ENST00000541292.6:c.122_123del	ENSP00000441004.1:p.Gly41AspfsTer14
ENST00000678593.1:c.122_123del	ENSP00000503841.1:p.Gly41AspfsTer14
ENST00000318471.4:c.122_123del	ENSP00000315680.3:p.Gly41AspfsTer14
ENST00000367756.8:c.122_123del	ENSP00000356730.4:p.Gly41AspfsTer14
ENST00000541292.5:c.122_123del	ENSP00000441004.1:p.Gly41AspfsTer14
NM_000288.3:c.122_123del	NP_000279.1:p.Gly41AspfsTer14
XM_006715502.1:c.122_123del	XP_006715565.1:p.Gly41AspfsTer14
XM_011535900.1:c.122_123del	XP_011534202.1:p.Gly41AspfsTer14
XM_006715502.2:c.122_123del	XP_006715565.1:p.Gly41AspfsTer14
XM_017010934.2:c.122_123del	XP_016866423.1:p.Gly41AspfsTer14
NM_000288.4:c.122_123del MANE Select	NP_000279.1:p.Gly41AspfsTer14