Canonical Allele Identifier: CA819502939

Gene: PEX7

Linked Data

• dbSNP Id: rs1220030518
• gnomAD v3: 6-136826296-TTG-T
• gnomAD v4: 6-136826296-TTG-T
• MyVariant Identifiers: chr6:g.137147435_137147436del (hg19) ; chr6:g.136826297_136826298del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826298_136826299del , CM000668.2:g.136826298_136826299del	GRCh38
NC_000006.11:g.137147436_137147437del , CM000668.1:g.137147436_137147437del	GRCh37
NC_000006.10:g.137189129_137189130del	NCBI36
NG_008462.1:g.8719_8720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.189-21_189-20del MANE Select	ENSP00000315680.3:n.189-21_189-20del
ENST00000541292.6:c.189-21_189-20del	ENSP00000441004.1:n.189-21_189-20del
ENST00000678002.1:c.59-16_59-15del
ENST00000678557.1:c.75-21_75-20del	ENSP00000502962.1:n.75-21_75-20del
ENST00000678593.1:c.189-16_189-15del	ENSP00000503841.1:n.189-16_189-15del
ENST00000679286.1:c.69-21_69-20del	ENSP00000503168.1:n.69-21_69-20del
ENST00000318471.4:c.189-21_189-20del	ENSP00000315680.3:n.189-21_189-20del
ENST00000367756.8:c.189-21_189-20del	ENSP00000356730.4:n.189-21_189-20del
ENST00000541292.5:c.189-21_189-20del	ENSP00000441004.1:n.189-21_189-20del
NM_000288.3:c.189-21_189-20del	NP_000279.1:n.189-21_189-20del
XM_005267019.3:c.75-21_75-20del	XP_005267076.1:n.75-21_75-20del
XM_006715502.1:c.189-21_189-20del	XP_006715565.1:n.189-21_189-20del
XM_011535900.1:c.189-21_189-20del	XP_011534202.1:n.189-21_189-20del
XM_005267019.4:c.75-21_75-20del	XP_005267076.1:n.75-21_75-20del
XM_006715502.2:c.189-21_189-20del	XP_006715565.1:n.189-21_189-20del
XM_017010934.2:c.189-21_189-20del	XP_016866423.1:n.189-21_189-20del
NM_000288.4:c.189-21_189-20del MANE Select	NP_000279.1:n.189-21_189-20del