Canonical Allele Identifier: CA10622618

Gene: SEC63

Linked Data

• ClinVar Variation Id: 354846
• ClinVar RCV Id: RCV000267748
• dbSNP Id: rs113337131
• gnomAD v2: 6-108190403-T-TA
• gnomAD v3: 6-107869199-T-TA
• gnomAD v4: 6-107869199-T-TA
• MyVariant Identifiers: chr6:g.108190404dupA (hg19) ; chr6:g.108190404_108190405insA (hg19) ; chr6:g.108190403_108190404insA (hg19) ; chr6:g.107869200dupA (hg38) ; chr6:g.107869200_107869201insA (hg38) ; chr6:g.107869199_107869200insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107869209dup , CM000668.2:g.107869209dup	GRCh38
NC_000006.11:g.108190413dup , CM000668.1:g.108190413dup	GRCh37
NC_000006.10:g.108297106dup	NCBI36
NG_008270.1:g.94079dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369002.9:c.*2504dup MANE Select	ENSP00000357998.4:n.*2504dup
ENST00000369002.8:c.*2504dup	ENSP00000357998.4:n.*2504dup
NM_007214.4:c.*2504dup	NP_009145.1:n.*2504dup
NM_007214.5:c.*2504dup MANE Select	NP_009145.1:n.*2504dup