Canonical Allele Identifier: CA10625563

Gene: SEC63

Linked Data

• ClinVar Variation Id: 354813
• ClinVar RCV Id: RCV000342237
• dbSNP Id: rs10685655
• gnomAD v2: 6-108189333-T-TGTC
• gnomAD v3: 6-107868129-T-TGTC
• gnomAD v4: 6-107868129-T-TGTC
• COSMIC: COSN20103219 ; COSN20103220 ; COSN20103221 ; COSN20103222 ; COSN20103223 ; COSN20103224
• MyVariant Identifiers: chr6:g.108189333_108189334insGTC (hg19) ; chr6:g.107868129_107868130insGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107868131_107868132insCGT , CM000668.2:g.107868131_107868132insCGT	GRCh38
NC_000006.11:g.108189335_108189336insCGT , CM000668.1:g.108189335_108189336insCGT	GRCh37
NC_000006.10:g.108296028_108296029insCGT	NCBI36
NG_008270.1:g.95149_95150insGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369002.9:c.*3574_*3575insGAC MANE Select	ENSP00000357998.4:n.*3574_*3575insGAC
ENST00000369002.8:c.*3574_*3575insGAC	ENSP00000357998.4:n.*3574_*3575insGAC
NM_007214.4:c.*3574_*3575insGAC	NP_009145.1:n.*3574_*3575insGAC
NM_007214.5:c.*3574_*3575insGAC MANE Select	NP_009145.1:n.*3574_*3575insGAC