Canonical Allele Identifier: CA2573140588

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1621376
• ClinVar RCV Id: RCV002094123
• dbSNP Id: rs2115229196
• gnomAD v4: 6-136872261-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872262_136872263del , CM000668.2:g.136872262_136872263del	GRCh38
NC_000006.11:g.137193400_137193401del , CM000668.1:g.137193400_137193401del	GRCh37
NC_000006.10:g.137235093_137235094del	NCBI36
NG_008462.1:g.54683_54684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+9_803+10del MANE Select	ENSP00000315680.3:n.803+9_803+10del
ENST00000541292.6:c.*68+9_*68+10del	ENSP00000441004.1:n.*68+9_*68+10del
ENST00000678002.1:c.491+9_491+10del
ENST00000678557.1:c.689+9_689+10del	ENSP00000502962.1:n.689+9_689+10del
ENST00000678593.1:c.817_818del	ENSP00000503841.1:n.817_818del
ENST00000679286.1:c.683+9_683+10del	ENSP00000503168.1:n.683+9_683+10del
ENST00000318471.4:c.803+9_803+10del	ENSP00000315680.3:n.803+9_803+10del
NM_000288.3:c.803+9_803+10del	NP_000279.1:n.803+9_803+10del
XM_005267019.3:c.689+9_689+10del	XP_005267076.1:n.689+9_689+10del
XM_006715502.1:c.509+9_509+10del	XP_006715565.1:n.509+9_509+10del
XM_011535900.1:c.527-25880_527-25879del	XP_011534202.1:n.527-25880_527-25879del
XM_005267019.4:c.689+9_689+10del	XP_005267076.1:n.689+9_689+10del
XM_006715502.2:c.509+9_509+10del	XP_006715565.1:n.509+9_509+10del
XM_017010934.2:c.527-25880_527-25879del	XP_016866423.1:n.527-25880_527-25879del
NM_000288.4:c.803+9_803+10del MANE Select	NP_000279.1:n.803+9_803+10del