Canonical Allele Identifier: CA4017736

Gene: PEX7

Linked Data

• dbSNP Id: rs373023744
• ExAC: 6:137193309 G / GT
• gnomAD v2: 6-137193309-G-GT
• gnomAD v3: 6-136872171-G-GT
• gnomAD v4: 6-136872171-G-GT
• MyVariant Identifiers: chr6:g.137193320delinsTC (hg19) ; chr6:g.137193310_137193311insT (hg19) ; chr6:g.137193309_137193310insT (hg19) ; chr6:g.136872182delinsTC (hg38) ; chr6:g.136872172_136872173insT (hg38) ; chr6:g.136872171_136872172insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872181dup , CM000668.2:g.136872181dup	GRCh38
NC_000006.11:g.137193319dup , CM000668.1:g.137193319dup	GRCh37
NC_000006.10:g.137235012dup	NCBI36
NG_008462.1:g.54602dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-17dup MANE Select	ENSP00000315680.3:n.748-17dup
ENST00000541292.6:c.*13-17dup	ENSP00000441004.1:n.*13-17dup
ENST00000678002.1:c.436-17dup
ENST00000678557.1:c.634-17dup	ENSP00000502962.1:n.634-17dup
ENST00000678593.1:c.753-17dup	ENSP00000503841.1:n.753-17dup
ENST00000679286.1:c.628-17dup	ENSP00000503168.1:n.628-17dup
ENST00000318471.4:c.748-17dup	ENSP00000315680.3:n.748-17dup
NM_000288.3:c.748-17dup	NP_000279.1:n.748-17dup
XM_005267019.3:c.634-17dup	XP_005267076.1:n.634-17dup
XM_006715502.1:c.454-17dup	XP_006715565.1:n.454-17dup
XM_011535900.1:c.527-25961dup	XP_011534202.1:n.527-25961dup
XM_005267019.4:c.634-17dup	XP_005267076.1:n.634-17dup
XM_006715502.2:c.454-17dup	XP_006715565.1:n.454-17dup
XM_017010934.2:c.527-25961dup	XP_016866423.1:n.527-25961dup
NM_000288.4:c.748-17dup MANE Select	NP_000279.1:n.748-17dup