Canonical Allele Identifier: CA201284

Gene: SEC63

Linked Data

• ClinVar Variation Id: 194646
• ClinVar RCV Id: RCV000175067 ; RCV002500471
• dbSNP Id: rs752868449
• gnomAD v2: 6-108214754-G-GT
• gnomAD v3: 6-107893550-G-GT
• gnomAD v4: 6-107893550-G-GT
• MyVariant Identifiers: chr6:g.108214755dup (hg19) ; chr6:g.108214755dupT (hg19) ; chr6:g.108214756_108214757insT (hg19) ; chr6:g.108214754_108214755insT (hg19) ; chr6:g.107893551dupT (hg38) ; chr6:g.107893552_107893553insT (hg38) ; chr6:g.107893550_107893551insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107893560dup , CM000668.2:g.107893560dup	GRCh38
NC_000006.11:g.108214764dup , CM000668.1:g.108214764dup	GRCh37
NC_000006.10:g.108321457dup	NCBI36
NG_008270.1:g.69728dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369002.9:c.1605dup MANE Select	ENSP00000357998.4:p.Pro536ThrfsTer24
ENST00000369002.8:c.1605dup	ENSP00000357998.4:p.Pro536ThrfsTer24
NM_007214.4:c.1605dup	NP_009145.1:p.Pro536ThrfsTer24
XM_011535399.1:c.1437dup	XP_011533701.1:p.Pro480ThrfsTer24
XM_017010218.2:c.507dup	XP_016865707.1:p.Pro170ThrfsTer24
NM_007214.5:c.1605dup MANE Select	NP_009145.1:p.Pro536ThrfsTer24