Canonical Allele Identifier: CA10625451

Gene: SEC63

Linked Data

• ClinVar Variation Id: 354821
• ClinVar RCV Id: RCV000314346
• dbSNP Id: rs56104837
• gnomAD v2: 6-108189427-TA-T
• gnomAD v3: 6-107868223-TA-T
• gnomAD v4: 6-107868223-TA-T
• COSMIC: COSN20103225 ; COSN20103226 ; COSN20103227 ; COSN20103228 ; COSN20103229 ; COSN20103230
• MyVariant Identifiers: chr6:g.108189429del (hg19) ; chr6:g.108189428del (hg19) ; chr6:g.107868225del (hg38) ; chr6:g.107868224del (hg38)

Genomic Alleles

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

Transcript Alleles

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