Canonical Allele Identifier: CA570744312

Gene: PEX7

Linked Data

• dbSNP Id: rs1427915737
• gnomAD v2: 6-137147263-C-CTTTT
• MyVariant Identifiers: chr6:g.137147263_137147264insTTTT (hg19) ; chr6:g.136826125_136826126insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826128_136826129insTTTT , CM000668.2:g.136826128_136826129insTTTT	GRCh38
NC_000006.11:g.137147266_137147267insTTTT , CM000668.1:g.137147266_137147267insTTTT	GRCh37
NC_000006.10:g.137188959_137188960insTTTT	NCBI36
NG_008462.1:g.8549_8550insTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.189-191_189-190insTTTT MANE Select	ENSP00000315680.3:n.189-191_189-190insTTTT
ENST00000541292.6:c.189-191_189-190insTTTT	ENSP00000441004.1:n.189-191_189-190insTTTT
ENST00000678002.1:c.59-186_59-185insTTTT
ENST00000678557.1:c.75-191_75-190insTTTT	ENSP00000502962.1:n.75-191_75-190insTTTT
ENST00000678593.1:c.189-186_189-185insTTTT	ENSP00000503841.1:n.189-186_189-185insTTTT
ENST00000679286.1:c.69-191_69-190insTTTT	ENSP00000503168.1:n.69-191_69-190insTTTT
ENST00000318471.4:c.189-191_189-190insTTTT	ENSP00000315680.3:n.189-191_189-190insTTTT
ENST00000367756.8:c.189-191_189-190insTTTT	ENSP00000356730.4:n.189-191_189-190insTTTT
ENST00000541292.5:c.189-191_189-190insTTTT	ENSP00000441004.1:n.189-191_189-190insTTTT
NM_000288.3:c.189-191_189-190insTTTT	NP_000279.1:n.189-191_189-190insTTTT
XM_005267019.3:c.75-191_75-190insTTTT	XP_005267076.1:n.75-191_75-190insTTTT
XM_006715502.1:c.189-191_189-190insTTTT	XP_006715565.1:n.189-191_189-190insTTTT
XM_011535900.1:c.189-191_189-190insTTTT	XP_011534202.1:n.189-191_189-190insTTTT
XM_005267019.4:c.75-191_75-190insTTTT	XP_005267076.1:n.75-191_75-190insTTTT
XM_006715502.2:c.189-191_189-190insTTTT	XP_006715565.1:n.189-191_189-190insTTTT
XM_017010934.2:c.189-191_189-190insTTTT	XP_016866423.1:n.189-191_189-190insTTTT
NM_000288.4:c.189-191_189-190insTTTT MANE Select	NP_000279.1:n.189-191_189-190insTTTT