Canonical Allele Identifier: CA2773213239

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826510_136826512del , CM000668.2:g.136826510_136826512del	GRCh38
NC_000006.11:g.137147648_137147650del , CM000668.1:g.137147648_137147650del	GRCh37
NC_000006.10:g.137189341_137189343del	NCBI36
NG_008462.1:g.8931_8933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.339+41_339+43del MANE Select	ENSP00000315680.3:n.339+41_339+43del
ENST00000541292.6:c.339+41_339+43del	ENSP00000441004.1:n.339+41_339+43del
ENST00000678002.1:c.214+41_214+43del
ENST00000678557.1:c.225+41_225+43del	ENSP00000502962.1:n.225+41_225+43del
ENST00000678593.1:c.344+41_344+43del	ENSP00000503841.1:n.344+41_344+43del
ENST00000679286.1:c.219+41_219+43del	ENSP00000503168.1:n.219+41_219+43del
ENST00000318471.4:c.339+41_339+43del	ENSP00000315680.3:n.339+41_339+43del
ENST00000367756.8:c.339+41_339+43del	ENSP00000356730.4:n.339+41_339+43del
ENST00000541292.5:c.339+41_339+43del	ENSP00000441004.1:n.339+41_339+43del
NM_000288.3:c.339+41_339+43del	NP_000279.1:n.339+41_339+43del
XM_005267019.3:c.225+41_225+43del	XP_005267076.1:n.225+41_225+43del
XM_006715502.1:c.339+41_339+43del	XP_006715565.1:n.339+41_339+43del
XM_011535900.1:c.339+41_339+43del	XP_011534202.1:n.339+41_339+43del
XM_005267019.4:c.225+41_225+43del	XP_005267076.1:n.225+41_225+43del
XM_006715502.2:c.339+41_339+43del	XP_006715565.1:n.339+41_339+43del
XM_017010934.2:c.339+41_339+43del	XP_016866423.1:n.339+41_339+43del
NM_000288.4:c.339+41_339+43del MANE Select	NP_000279.1:n.339+41_339+43del