Canonical Allele Identifier: CA2580616305

Gene: STXBP1

Linked Data

• ClinVar Variation Id: 1382874
• ClinVar RCV Id: RCV001890606
• dbSNP Id: rs2131451053

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127660106_127660109del , CM000671.2:g.127660106_127660109del	GRCh38
NC_000009.11:g.130422385_130422388del , CM000671.1:g.130422385_130422388del	GRCh37
NC_000009.10:g.129462206_129462209del	NCBI36
NG_016623.1:g.52900_52903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.281_283+1del
ENST00000704681.1:c.323_325+1del
ENST00000373299.5:c.323_325+1del
ENST00000373302.8:c.323_325+1del
ENST00000626539.3:c.281_283+1del
ENST00000635950.2:c.323_325+1del
ENST00000636509.2:c.281_283+1del
ENST00000636962.2:c.323_325+1del
ENST00000637060.2:c.346_348+1del
ENST00000637173.2:c.281_283+1del
ENST00000637464.2:c.*1187_*1189+1del
ENST00000637521.2:c.281_283+1del
ENST00000637953.1:c.323_325+1del
ENST00000647107.1:c.265_267+1del
ENST00000650920.1:c.281_283+1del
ENST00000373299.4:c.323_325+1del
ENST00000373302.7:c.323_325+1del
ENST00000625363.2:c.281_283+1del
ENST00000626333.1:c.281_283+1del
ENST00000626539.2:c.281_283+1del
ENST00000627871.2:c.212_214+1del
ENST00000630492.2:c.281_283+1del
NM_001032221.3:c.323_325+1del
NM_003165.3:c.323_325+1del
NM_001032221.6:c.323_325+1del
NM_001374306.2:c.323_325+1del
NM_001374307.2:c.281_283+1del
NM_001374308.2:c.281_283+1del
NM_001374309.2:c.281_283+1del
NM_001374310.2:c.281_283+1del
NM_001374311.2:c.281_283+1del
NM_001374312.2:c.281_283+1del
NM_001374313.2:c.323_325+1del
NM_001374314.1:c.323_325+1del
NM_001374315.2:c.323_325+1del
NM_003165.6:c.323_325+1del