Canonical Allele Identifier: CA10621133

Gene: SEC63

Linked Data

• ClinVar Variation Id: 354820
• ClinVar RCV Id: RCV000402695
• dbSNP Id: rs56104837
• gnomAD v2: 6-108189427-T-TA
• gnomAD v3: 6-107868223-T-TA
• gnomAD v4: 6-107868223-T-TA
• MyVariant Identifiers: chr6:g.108189428dupA (hg19) ; chr6:g.108189429_108189430insA (hg19) ; chr6:g.108189427_108189428insA (hg19) ; chr6:g.107868224dupA (hg38) ; chr6:g.107868225_107868226insA (hg38) ; chr6:g.107868223_107868224insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107868236dup , CM000668.2:g.107868236dup	GRCh38
NC_000006.11:g.108189440dup , CM000668.1:g.108189440dup	GRCh37
NC_000006.10:g.108296133dup	NCBI36
NG_008270.1:g.95055dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369002.9:c.*3480dup MANE Select	ENSP00000357998.4:n.*3480dup
ENST00000369002.8:c.*3480dup	ENSP00000357998.4:n.*3480dup
NM_007214.4:c.*3480dup	NP_009145.1:n.*3480dup
NM_007214.5:c.*3480dup MANE Select	NP_009145.1:n.*3480dup