Canonical Allele Identifier: CA658683551

Gene: STXBP1

Linked Data

• ClinVar Variation Id: 496686
• ClinVar RCV Id: RCV000590900 ; RCV003225094
• dbSNP Id: rs1554776853
• MyVariant Identifiers: chr9:g.130422387_130422388del (hg19) ; chr9:g.127660108_127660109del (hg38)
• PubMed: PMID:25741894

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127660110_127660111del , CM000671.2:g.127660110_127660111del	GRCh38
NC_000009.11:g.130422389_130422390del , CM000671.1:g.130422389_130422390del	GRCh37
NC_000009.10:g.129462210_129462211del	NCBI36
NG_016623.1:g.52904_52905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.283+2_283+3del
ENST00000704681.1:c.325+2_325+3del
ENST00000373299.5:c.325+2_325+3del
ENST00000373302.8:c.325+2_325+3del
ENST00000626539.3:c.283+2_283+3del
ENST00000635950.2:c.325+2_325+3del
ENST00000636509.2:c.283+2_283+3del
ENST00000636962.2:c.325+2_325+3del
ENST00000637060.2:c.348+2_348+3del
ENST00000637173.2:c.283+2_283+3del
ENST00000637464.2:c.*1189+2_*1189+3del
ENST00000637521.2:c.283+2_283+3del
ENST00000637953.1:c.325+2_325+3del
ENST00000647107.1:c.267+2_267+3del
ENST00000650920.1:c.283+2_283+3del
ENST00000373299.4:c.325+2_325+3del
ENST00000373302.7:c.325+2_325+3del
ENST00000625363.2:c.283+2_283+3del
ENST00000626333.1:c.283+2_283+3del
ENST00000626539.2:c.283+2_283+3del
ENST00000627871.2:c.214+2_214+3del
ENST00000630492.2:c.283+2_283+3del
NM_001032221.3:c.325+2_325+3del
NM_003165.3:c.325+2_325+3del
NM_001032221.6:c.325+2_325+3del
NM_001374306.2:c.325+2_325+3del
NM_001374307.2:c.283+2_283+3del
NM_001374308.2:c.283+2_283+3del
NM_001374309.2:c.283+2_283+3del
NM_001374310.2:c.283+2_283+3del
NM_001374311.2:c.283+2_283+3del
NM_001374312.2:c.283+2_283+3del
NM_001374313.2:c.325+2_325+3del
NM_001374314.1:c.325+2_325+3del
NM_001374315.2:c.325+2_325+3del
NM_003165.6:c.325+2_325+3del