Canonical Allele Identifier: CA10626004

Gene: STX11

Linked Data

• ClinVar Variation Id: 355659
• ClinVar RCV Id: RCV000282258
• dbSNP Id: rs397795966
• gnomAD v2: 6-144512671-T-TA
• gnomAD v3: 6-144191534-T-TA
• gnomAD v4: 6-144191534-T-TA
• COSMIC: COSN20103467 ; COSN20103468 ; COSN20103469 ; COSN20103470 ; COSN20103471 ; COSN20103472
• MyVariant Identifiers: chr6:g.144512682dupA (hg19) ; chr6:g.144512672_144512673insA (hg19) ; chr6:g.144512671_144512672insA (hg19) ; chr6:g.144191545dupA (hg38) ; chr6:g.144191535_144191536insA (hg38) ; chr6:g.144191534_144191535insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.144191545dup , CM000668.2:g.144191545dup	GRCh38
NC_000006.11:g.144512682dup , CM000668.1:g.144512682dup	GRCh37
NC_000006.10:g.144554375dup	NCBI36
NG_007613.1:g.46029dup , LRG_113:g.46029dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367568.5:c.*4054dup MANE Select	ENSP00000356540.4:n.*4054dup
NM_003764.3:c.*4054dup , LRG_113t1:c.*4054dup	NP_003755.2:n.*4054dup
NM_003764.4:c.*4054dup MANE Select	NP_003755.2:n.*4054dup