Canonical Allele Identifier: CA10622588
Gene: SEC63 HGNC NCBI

Linked Data

ClinVar Variation Id: 354824
ClinVar RCV Id: RCV000313075
dbSNP Id: rs886060939
gnomAD v2: 6-108189475-T-TG
gnomAD v3: 6-107868271-T-TG
gnomAD v4: 6-107868271-T-TG
MyVariant Identifiers: chr6:g.108189476dupG (hg19) chr6:g.108189475_108189476insG (hg19) chr6:g.107868272dupG (hg38) chr6:g.107868271_107868272insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.107868272dup , CM000668.2:g.107868272dup GRCh38
NC_000006.11:g.108189476dup , CM000668.1:g.108189476dup GRCh37
NC_000006.10:g.108296169dup NCBI36
NG_008270.1:g.95007dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369002.9:c.*3432dup MANE Select ENSP00000357998.4:n.*3432dup
ENST00000369002.8:c.*3432dup ENSP00000357998.4:n.*3432dup
NM_007214.4:c.*3432dup NP_009145.1:n.*3432dup
NM_007214.5:c.*3432dup MANE Select NP_009145.1:n.*3432dup
Search 100 bp 5'
Search 100 bp 3'