Canonical Allele Identifier: CA2773213267

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826522_136826523del , CM000668.2:g.136826522_136826523del	GRCh38
NC_000006.11:g.137147660_137147661del , CM000668.1:g.137147660_137147661del	GRCh37
NC_000006.10:g.137189353_137189354del	NCBI36
NG_008462.1:g.8943_8944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.339+53_339+54del MANE Select	ENSP00000315680.3:n.339+53_339+54del
ENST00000541292.6:c.339+53_339+54del	ENSP00000441004.1:n.339+53_339+54del
ENST00000678002.1:c.214+53_214+54del
ENST00000678557.1:c.225+53_225+54del	ENSP00000502962.1:n.225+53_225+54del
ENST00000678593.1:c.344+53_344+54del	ENSP00000503841.1:n.344+53_344+54del
ENST00000679286.1:c.219+53_219+54del	ENSP00000503168.1:n.219+53_219+54del
ENST00000318471.4:c.339+53_339+54del	ENSP00000315680.3:n.339+53_339+54del
ENST00000367756.8:c.339+53_339+54del	ENSP00000356730.4:n.339+53_339+54del
ENST00000541292.5:c.339+53_339+54del	ENSP00000441004.1:n.339+53_339+54del
NM_000288.3:c.339+53_339+54del	NP_000279.1:n.339+53_339+54del
XM_005267019.3:c.225+53_225+54del	XP_005267076.1:n.225+53_225+54del
XM_006715502.1:c.339+53_339+54del	XP_006715565.1:n.339+53_339+54del
XM_011535900.1:c.339+53_339+54del	XP_011534202.1:n.339+53_339+54del
XM_005267019.4:c.225+53_225+54del	XP_005267076.1:n.225+53_225+54del
XM_006715502.2:c.339+53_339+54del	XP_006715565.1:n.339+53_339+54del
XM_017010934.2:c.339+53_339+54del	XP_016866423.1:n.339+53_339+54del
NM_000288.4:c.339+53_339+54del MANE Select	NP_000279.1:n.339+53_339+54del