Canonical Allele Identifier: CA2695207125

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826451_136826452del , CM000668.2:g.136826451_136826452del	GRCh38
NC_000006.11:g.137147589_137147590del , CM000668.1:g.137147589_137147590del	GRCh37
NC_000006.10:g.137189282_137189283del	NCBI36
NG_008462.1:g.8872_8873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.321_322del MANE Select	ENSP00000315680.3:p.Tyr107Ter
ENST00000541292.6:c.321_322del	ENSP00000441004.1:p.Tyr107Ter
ENST00000678002.1:c.196_197del
ENST00000678557.1:c.207_208del	ENSP00000502962.1:p.Tyr69Ter
ENST00000678593.1:c.326_327del	ENSP00000503841.1:n.326_327del
ENST00000679286.1:c.201_202del	ENSP00000503168.1:p.Tyr67Ter
ENST00000318471.4:c.321_322del	ENSP00000315680.3:p.Tyr107Ter
ENST00000367756.8:c.321_322del	ENSP00000356730.4:p.Tyr107Ter
ENST00000541292.5:c.321_322del	ENSP00000441004.1:p.Tyr107Ter
NM_000288.3:c.321_322del	NP_000279.1:p.Tyr107Ter
XM_005267019.3:c.207_208del	XP_005267076.1:p.Tyr69Ter
XM_006715502.1:c.321_322del	XP_006715565.1:p.Tyr107Ter
XM_011535900.1:c.321_322del	XP_011534202.1:p.Tyr107Ter
XM_005267019.4:c.207_208del	XP_005267076.1:p.Tyr69Ter
XM_006715502.2:c.321_322del	XP_006715565.1:p.Tyr107Ter
XM_017010934.2:c.321_322del	XP_016866423.1:p.Tyr107Ter
NM_000288.4:c.321_322del MANE Select	NP_000279.1:p.Tyr107Ter