Canonical Allele Identifier: CA819502761

Gene: PEX7

Linked Data

• dbSNP Id: rs1480495059
• gnomAD v2: 6-137147283-ATT-A
• gnomAD v3: 6-136826145-ATT-A
• gnomAD v4: 6-136826145-ATT-A
• MyVariant Identifiers: chr6:g.137147284_137147285del (hg19) ; chr6:g.136826146_136826147del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826147_136826148del , CM000668.2:g.136826147_136826148del	GRCh38
NC_000006.11:g.137147285_137147286del , CM000668.1:g.137147285_137147286del	GRCh37
NC_000006.10:g.137188978_137188979del	NCBI36
NG_008462.1:g.8568_8569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.189-172_189-171del MANE Select	ENSP00000315680.3:n.189-172_189-171del
ENST00000541292.6:c.189-172_189-171del	ENSP00000441004.1:n.189-172_189-171del
ENST00000678002.1:c.59-167_59-166del
ENST00000678557.1:c.75-172_75-171del	ENSP00000502962.1:n.75-172_75-171del
ENST00000678593.1:c.189-167_189-166del	ENSP00000503841.1:n.189-167_189-166del
ENST00000679286.1:c.69-172_69-171del	ENSP00000503168.1:n.69-172_69-171del
ENST00000318471.4:c.189-172_189-171del	ENSP00000315680.3:n.189-172_189-171del
ENST00000367756.8:c.189-172_189-171del	ENSP00000356730.4:n.189-172_189-171del
ENST00000541292.5:c.189-172_189-171del	ENSP00000441004.1:n.189-172_189-171del
NM_000288.3:c.189-172_189-171del	NP_000279.1:n.189-172_189-171del
XM_005267019.3:c.75-172_75-171del	XP_005267076.1:n.75-172_75-171del
XM_006715502.1:c.189-172_189-171del	XP_006715565.1:n.189-172_189-171del
XM_011535900.1:c.189-172_189-171del	XP_011534202.1:n.189-172_189-171del
XM_005267019.4:c.75-172_75-171del	XP_005267076.1:n.75-172_75-171del
XM_006715502.2:c.189-172_189-171del	XP_006715565.1:n.189-172_189-171del
XM_017010934.2:c.189-172_189-171del	XP_016866423.1:n.189-172_189-171del
NM_000288.4:c.189-172_189-171del MANE Select	NP_000279.1:n.189-172_189-171del