Canonical Allele Identifier: CA10622632

Gene: SEC63

Linked Data

• ClinVar Variation Id: 354860
• ClinVar RCV Id: RCV000404338
• dbSNP Id: rs886060948
• gnomAD v2: 6-108190987-T-TG
• gnomAD v3: 6-107869783-T-TG
• gnomAD v4: 6-107869783-T-TG
• MyVariant Identifiers: chr6:g.108190987_108190988insG (hg19) ; chr6:g.107869783_107869784insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107869783_107869784insG , CM000668.2:g.107869783_107869784insG	GRCh38
NC_000006.11:g.108190987_108190988insG , CM000668.1:g.108190987_108190988insG	GRCh37
NC_000006.10:g.108297680_108297681insG	NCBI36
NG_008270.1:g.93495_93496insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369002.9:c.*1920_*1921insC MANE Select	ENSP00000357998.4:n.*1920_*1921insC
ENST00000369002.8:c.*1920_*1921insC	ENSP00000357998.4:n.*1920_*1921insC
NM_007214.4:c.*1920_*1921insC	NP_009145.1:n.*1920_*1921insC
NM_007214.5:c.*1920_*1921insC MANE Select	NP_009145.1:n.*1920_*1921insC