Canonical Allele Identifier: CA2773213266

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826521_136826524del , CM000668.2:g.136826521_136826524del	GRCh38
NC_000006.11:g.137147659_137147662del , CM000668.1:g.137147659_137147662del	GRCh37
NC_000006.10:g.137189352_137189355del	NCBI36
NG_008462.1:g.8942_8945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.339+52_339+55del MANE Select	ENSP00000315680.3:n.339+52_339+55del
ENST00000541292.6:c.339+52_339+55del	ENSP00000441004.1:n.339+52_339+55del
ENST00000678002.1:c.214+52_214+55del
ENST00000678557.1:c.225+52_225+55del	ENSP00000502962.1:n.225+52_225+55del
ENST00000678593.1:c.344+52_344+55del	ENSP00000503841.1:n.344+52_344+55del
ENST00000679286.1:c.219+52_219+55del	ENSP00000503168.1:n.219+52_219+55del
ENST00000318471.4:c.339+52_339+55del	ENSP00000315680.3:n.339+52_339+55del
ENST00000367756.8:c.339+52_339+55del	ENSP00000356730.4:n.339+52_339+55del
ENST00000541292.5:c.339+52_339+55del	ENSP00000441004.1:n.339+52_339+55del
NM_000288.3:c.339+52_339+55del	NP_000279.1:n.339+52_339+55del
XM_005267019.3:c.225+52_225+55del	XP_005267076.1:n.225+52_225+55del
XM_006715502.1:c.339+52_339+55del	XP_006715565.1:n.339+52_339+55del
XM_011535900.1:c.339+52_339+55del	XP_011534202.1:n.339+52_339+55del
XM_005267019.4:c.225+52_225+55del	XP_005267076.1:n.225+52_225+55del
XM_006715502.2:c.339+52_339+55del	XP_006715565.1:n.339+52_339+55del
XM_017010934.2:c.339+52_339+55del	XP_016866423.1:n.339+52_339+55del
NM_000288.4:c.339+52_339+55del MANE Select	NP_000279.1:n.339+52_339+55del