Canonical Allele Identifier: CA1094888301

Gene: PEX7

Linked Data

• dbSNP Id: rs1774183717
• gnomAD v3: 6-136826072-G-GCC
• gnomAD v4: 6-136826072-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826072_136826073insCC , CM000668.2:g.136826072_136826073insCC	GRCh38
NC_000006.11:g.137147210_137147211insCC , CM000668.1:g.137147210_137147211insCC	GRCh37
NC_000006.10:g.137188903_137188904insCC	NCBI36
NG_008462.1:g.8493_8494insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.189-247_189-246insCC MANE Select	ENSP00000315680.3:n.189-247_189-246insCC
ENST00000541292.6:c.189-247_189-246insCC	ENSP00000441004.1:n.189-247_189-246insCC
ENST00000678002.1:c.59-242_59-241insCC
ENST00000678557.1:c.75-247_75-246insCC	ENSP00000502962.1:n.75-247_75-246insCC
ENST00000678593.1:c.189-242_189-241insCC	ENSP00000503841.1:n.189-242_189-241insCC
ENST00000679286.1:c.69-247_69-246insCC	ENSP00000503168.1:n.69-247_69-246insCC
ENST00000318471.4:c.189-247_189-246insCC	ENSP00000315680.3:n.189-247_189-246insCC
ENST00000367756.8:c.189-247_189-246insCC	ENSP00000356730.4:n.189-247_189-246insCC
ENST00000541292.5:c.189-247_189-246insCC	ENSP00000441004.1:n.189-247_189-246insCC
NM_000288.3:c.189-247_189-246insCC	NP_000279.1:n.189-247_189-246insCC
XM_005267019.3:c.75-247_75-246insCC	XP_005267076.1:n.75-247_75-246insCC
XM_006715502.1:c.189-247_189-246insCC	XP_006715565.1:n.189-247_189-246insCC
XM_011535900.1:c.189-247_189-246insCC	XP_011534202.1:n.189-247_189-246insCC
XM_005267019.4:c.75-247_75-246insCC	XP_005267076.1:n.75-247_75-246insCC
XM_006715502.2:c.189-247_189-246insCC	XP_006715565.1:n.189-247_189-246insCC
XM_017010934.2:c.189-247_189-246insCC	XP_016866423.1:n.189-247_189-246insCC
NM_000288.4:c.189-247_189-246insCC MANE Select	NP_000279.1:n.189-247_189-246insCC