Canonical Allele Identifier: CA290068069

Gene: PEX12

Linked Data

• ClinVar Variation Id: 556045
• ClinVar RCV Id: RCV002250679
• dbSNP Id: rs267608184
• gnomAD v2: 17-33902831-ATGT-A
• gnomAD v3: 17-35575812-ATGT-A
• gnomAD v4: 17-35575812-ATGT-A
• MyVariant Identifiers: chr17:g.33902832_33902834del (hg19) ; chr17:g.35575813_35575815del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35575816_35575818del , CM000679.2:g.35575816_35575818del	GRCh38
NC_000017.10:g.33902835_33902837del , CM000679.1:g.33902835_33902837del	GRCh37
NC_000017.9:g.30926948_30926950del	NCBI36
NG_008447.1:g.7823_7825del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225873.9:c.1047_1049del MANE Select	ENSP00000225873.3:p.Gln349del
ENST00000586663.2:c.1047_1049del	ENSP00000466894.2:p.Gln349del
ENST00000225873.8:c.1047_1049del	ENSP00000225873.3:p.Gln349del
ENST00000586663.1:c.1047_1049del	ENSP00000466894.1:p.Gln349del
ENST00000613219.4:c.1047_1049del	ENSP00000482609.1:p.Gln349del
NM_000286.2:c.1047_1049del	NP_000277.1:p.Gln349del
NM_000286.3:c.1047_1049del MANE Select	NP_000277.1:p.Gln349del