Canonical Allele Identifier: CA200262820

Gene: STXBP1

Linked Data

• dbSNP Id: rs887374410
• gnomAD v3: 9-127659754-GTCT-G
• gnomAD v4: 9-127659754-GTCT-G
• MyVariant Identifiers: chr9:g.130422034_130422036del (hg19) ; chr9:g.127659755_127659757del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127659757_127659759del , CM000671.2:g.127659757_127659759del	GRCh38
NC_000009.11:g.130422036_130422038del , CM000671.1:g.130422036_130422038del	GRCh37
NC_000009.10:g.129461857_129461859del	NCBI36
NG_016623.1:g.52551_52553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.205-273_205-271del	ENSP00000515991.1:n.205-273_205-271del
ENST00000704681.1:c.247-273_247-271del	ENSP00000515992.1:n.247-273_247-271del
ENST00000373299.5:c.247-273_247-271del MANE Select	ENSP00000362396.2:n.247-273_247-271del
ENST00000373302.8:c.247-273_247-271del MANE Plus Clinical	ENSP00000362399.3:n.247-273_247-271del
ENST00000626539.3:c.205-273_205-271del	ENSP00000487211.2:n.205-273_205-271del
ENST00000635950.2:c.247-273_247-271del	ENSP00000490903.1:n.247-273_247-271del
ENST00000636509.2:c.205-273_205-271del	ENSP00000490810.1:n.205-273_205-271del
ENST00000636962.2:c.247-273_247-271del	ENSP00000489762.1:n.247-273_247-271del
ENST00000637060.2:c.270-273_270-271del	ENSP00000490674.2:n.270-273_270-271del
ENST00000637173.2:c.205-273_205-271del	ENSP00000490519.1:n.205-273_205-271del
ENST00000637464.2:c.*1111-273_*1111-271del	ENSP00000489655.2:n.*1111-273_*1111-271del
ENST00000637521.2:c.205-273_205-271del	ENSP00000489791.1:n.205-273_205-271del
ENST00000637953.1:c.247-273_247-271del	ENSP00000490613.1:n.247-273_247-271del
ENST00000647107.1:c.189-273_189-271del
ENST00000650920.1:c.205-273_205-271del	ENSP00000498834.1:n.205-273_205-271del
ENST00000373299.4:c.247-273_247-271del	ENSP00000362396.1:n.247-273_247-271del
ENST00000373302.7:c.247-273_247-271del	ENSP00000362399.3:n.247-273_247-271del
ENST00000625363.2:c.205-273_205-271del	ENSP00000486944.1:n.205-273_205-271del
ENST00000626333.1:c.205-273_205-271del	ENSP00000486814.1:n.205-273_205-271del
ENST00000626539.2:c.205-273_205-271del	ENSP00000487211.1:n.205-273_205-271del
ENST00000627871.2:c.136-273_136-271del	ENSP00000485895.1:n.136-273_136-271del
ENST00000630492.2:c.205-273_205-271del	ENSP00000485680.1:n.205-273_205-271del
NM_001032221.3:c.247-273_247-271del	NP_001027392.1:n.247-273_247-271del
NM_003165.3:c.247-273_247-271del	NP_003156.1:n.247-273_247-271del
NM_001032221.6:c.247-273_247-271del MANE Select	NP_001027392.1:n.247-273_247-271del
NM_001374306.2:c.247-273_247-271del	NP_001361235.1:n.247-273_247-271del
NM_001374307.2:c.205-273_205-271del	NP_001361236.1:n.205-273_205-271del
NM_001374308.2:c.205-273_205-271del	NP_001361237.1:n.205-273_205-271del
NM_001374309.2:c.205-273_205-271del	NP_001361238.1:n.205-273_205-271del
NM_001374310.2:c.205-273_205-271del	NP_001361239.1:n.205-273_205-271del
NM_001374311.2:c.205-273_205-271del	NP_001361240.1:n.205-273_205-271del
NM_001374312.2:c.205-273_205-271del	NP_001361241.1:n.205-273_205-271del
NM_001374313.2:c.247-273_247-271del	NP_001361242.1:n.247-273_247-271del
NM_001374314.1:c.247-273_247-271del	NP_001361243.1:n.247-273_247-271del
NM_001374315.2:c.247-273_247-271del	NP_001361244.1:n.247-273_247-271del
NM_003165.6:c.247-273_247-271del MANE Plus Clinical	NP_003156.1:n.247-273_247-271del