Canonical Allele Identifier: CA1879911766

Gene: STXBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127666294_127666298delinsCAAGT , CM000671.2:g.127666294_127666298delinsCAAGT	GRCh38
NC_000009.11:g.130428573_130428577delinsCAAGT , CM000671.1:g.130428573_130428577delinsCAAGT	GRCh37
NC_000009.10:g.129468394_129468398delinsCAAGT	NCBI36
NG_016623.1:g.59088_59092delinsCAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.750_752+2delinsCAAGT
ENST00000704681.1:c.792_794+2delinsCAAGT
ENST00000373299.5:c.792_794+2delinsCAAGT
ENST00000373302.8:c.792_794+2delinsCAAGT
ENST00000626539.3:c.750_752+2delinsCAAGT
ENST00000635950.2:c.792_794+2delinsCAAGT
ENST00000636509.2:c.750_752+2delinsCAAGT
ENST00000636962.2:c.792_794+2delinsCAAGT
ENST00000637060.2:c.*434_*436+2delinsCAAGT
ENST00000637173.2:c.750_752+2delinsCAAGT
ENST00000637464.2:c.*1656_*1658+2delinsCAAGT
ENST00000637521.2:c.750_752+2delinsCAAGT
ENST00000637953.1:c.792_794+2delinsCAAGT
ENST00000647107.1:c.734_736+2delinsCAAGT
ENST00000650920.1:c.750_752+2delinsCAAGT
ENST00000373299.4:c.792_794+2delinsCAAGT
ENST00000373302.7:c.792_794+2delinsCAAGT
ENST00000626416.2:n.628_630+2delinsCAAGT
NM_001032221.3:c.792_794+2delinsCAAGT
NM_003165.3:c.792_794+2delinsCAAGT
NM_001032221.6:c.792_794+2delinsCAAGT
NM_001374306.2:c.783_785+2delinsCAAGT
NM_001374307.2:c.750_752+2delinsCAAGT
NM_001374308.2:c.750_752+2delinsCAAGT
NM_001374309.2:c.750_752+2delinsCAAGT
NM_001374310.2:c.750_752+2delinsCAAGT
NM_001374311.2:c.750_752+2delinsCAAGT
NM_001374312.2:c.750_752+2delinsCAAGT
NM_001374313.2:c.792_794+2delinsCAAGT
NM_001374314.1:c.792_794+2delinsCAAGT
NM_001374315.2:c.792_794+2delinsCAAGT
NM_003165.6:c.792_794+2delinsCAAGT