Canonical Allele Identifier: CA1879906015

Gene: STXBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127660107_127660109delinsCTG , CM000671.2:g.127660107_127660109delinsCTG	GRCh38
NC_000009.11:g.130422386_130422388delinsCTG , CM000671.1:g.130422386_130422388delinsCTG	GRCh37
NC_000009.10:g.129462207_129462209delinsCTG	NCBI36
NG_016623.1:g.52901_52903delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.282_283+1delinsCTG
ENST00000704681.1:c.324_325+1delinsCTG
ENST00000373299.5:c.324_325+1delinsCTG
ENST00000373302.8:c.324_325+1delinsCTG
ENST00000626539.3:c.282_283+1delinsCTG
ENST00000635950.2:c.324_325+1delinsCTG
ENST00000636509.2:c.282_283+1delinsCTG
ENST00000636962.2:c.324_325+1delinsCTG
ENST00000637060.2:c.347_348+1delinsCTG
ENST00000637173.2:c.282_283+1delinsCTG
ENST00000637464.2:c.*1188_*1189+1delinsCTG
ENST00000637521.2:c.282_283+1delinsCTG
ENST00000637953.1:c.324_325+1delinsCTG
ENST00000647107.1:c.266_267+1delinsCTG
ENST00000650920.1:c.282_283+1delinsCTG
ENST00000373299.4:c.324_325+1delinsCTG
ENST00000373302.7:c.324_325+1delinsCTG
ENST00000625363.2:c.282_283+1delinsCTG
ENST00000626333.1:c.282_283+1delinsCTG
ENST00000626539.2:c.282_283+1delinsCTG
ENST00000627871.2:c.213_214+1delinsCTG
ENST00000630492.2:c.282_283+1delinsCTG
NM_001032221.3:c.324_325+1delinsCTG
NM_003165.3:c.324_325+1delinsCTG
NM_001032221.6:c.324_325+1delinsCTG
NM_001374306.2:c.324_325+1delinsCTG
NM_001374307.2:c.282_283+1delinsCTG
NM_001374308.2:c.282_283+1delinsCTG
NM_001374309.2:c.282_283+1delinsCTG
NM_001374310.2:c.282_283+1delinsCTG
NM_001374311.2:c.282_283+1delinsCTG
NM_001374312.2:c.282_283+1delinsCTG
NM_001374313.2:c.324_325+1delinsCTG
NM_001374314.1:c.324_325+1delinsCTG
NM_001374315.2:c.324_325+1delinsCTG
NM_003165.6:c.324_325+1delinsCTG