Canonical Allele Identifier: CA10622635

Gene: SEC63

Linked Data

• ClinVar Variation Id: 354863
• ClinVar RCV Id: RCV000405733
• dbSNP Id: rs150602806
• gnomAD v2: 6-108191114-AAAAC-A
• gnomAD v3: 6-107869910-AAAAC-A
• gnomAD v4: 6-107869910-AAAAC-A
• COSMIC: COSN20103233 ; COSN20103234 ; COSN20103235 ; COSN20103236 ; COSN20103237 ; COSN20103238
• MyVariant Identifiers: chr6:g.108191115_108191118del (hg19) ; chr6:g.107869911_107869914del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107869913_107869916del , CM000668.2:g.107869913_107869916del	GRCh38
NC_000006.11:g.108191117_108191120del , CM000668.1:g.108191117_108191120del	GRCh37
NC_000006.10:g.108297810_108297813del	NCBI36
NG_008270.1:g.93365_93368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369002.9:c.*1790_*1793del MANE Select	ENSP00000357998.4:n.*1790_*1793del
ENST00000369002.8:c.*1790_*1793del	ENSP00000357998.4:n.*1790_*1793del
NM_007214.4:c.*1790_*1793del	NP_009145.1:n.*1790_*1793del
NM_007214.5:c.*1790_*1793del MANE Select	NP_009145.1:n.*1790_*1793del