Canonical Allele Identifier: CA10622642

Gene: SEC63

Linked Data

• ClinVar Variation Id: 354864
• ClinVar RCV Id: RCV000306822
• dbSNP Id: rs886060949
• gnomAD v2: 6-108191115-AAAC-A
• gnomAD v3: 6-107869911-AAAC-A
• gnomAD v4: 6-107869911-AAAC-A
• MyVariant Identifiers: chr6:g.108191116_108191118del (hg19) ; chr6:g.107869912_107869914del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107869915_107869917del , CM000668.2:g.107869915_107869917del	GRCh38
NC_000006.11:g.108191119_108191121del , CM000668.1:g.108191119_108191121del	GRCh37
NC_000006.10:g.108297812_108297814del	NCBI36
NG_008270.1:g.93365_93367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369002.9:c.*1790_*1792del MANE Select	ENSP00000357998.4:n.*1790_*1792del
ENST00000369002.8:c.*1790_*1792del	ENSP00000357998.4:n.*1790_*1792del
NM_007214.4:c.*1790_*1792del	NP_009145.1:n.*1790_*1792del
NM_007214.5:c.*1790_*1792del MANE Select	NP_009145.1:n.*1790_*1792del