Canonical Allele Identifier: CA570744627

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1338760
• ClinVar RCV Id: RCV001822980
• dbSNP Id: rs1456007349
• gnomAD v2: 6-137147560-GC-G
• gnomAD v3: 6-136826422-GC-G
• gnomAD v4: 6-136826422-GC-G
• MyVariant Identifiers: chr6:g.137147561del (hg19) ; chr6:g.136826423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826424del , CM000668.2:g.136826424del	GRCh38
NC_000006.11:g.137147562del , CM000668.1:g.137147562del	GRCh37
NC_000006.10:g.137189255del	NCBI36
NG_008462.1:g.8845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.294del MANE Select	ENSP00000315680.3:p.Ala100LeufsTer?
ENST00000541292.6:c.294del	ENSP00000441004.1:p.Ala100LeufsTer?
ENST00000678002.1:c.169del
ENST00000678557.1:c.180del	ENSP00000502962.1:p.Ala62LeufsTer?
ENST00000678593.1:c.299del	ENSP00000503841.1:n.299del
ENST00000679286.1:c.174del	ENSP00000503168.1:p.Ala60LeufsTer?
ENST00000318471.4:c.294del	ENSP00000315680.3:p.Ala100LeufsTer?
ENST00000367756.8:c.294del	ENSP00000356730.4:p.Ala100LeufsTer22
ENST00000541292.5:c.294del	ENSP00000441004.1:p.Ala100LeufsTer?
NM_000288.3:c.294del	NP_000279.1:p.Ala100LeufsTer?
XM_005267019.3:c.180del	XP_005267076.1:p.Ala62LeufsTer?
XM_006715502.1:c.294del	XP_006715565.1:p.Ala100LeufsTer18
XM_011535900.1:c.294del	XP_011534202.1:p.Ala100LeufsTer?
XM_005267019.4:c.180del	XP_005267076.1:p.Ala62LeufsTer?
XM_006715502.2:c.294del	XP_006715565.1:p.Ala100LeufsTer18
XM_017010934.2:c.294del	XP_016866423.1:p.Ala100LeufsTer?
NM_000288.4:c.294del MANE Select	NP_000279.1:p.Ala100LeufsTer?