Canonical Allele Identifier: CA5248570

Gene: STXBP1

Linked Data

• ClinVar Variation Id: 676790
• ClinVar RCV Id: RCV000836255
• dbSNP Id: rs145978705
• ExAC: 9:130444660 TTC / T
• gnomAD v2: 9-130444660-TTC-T
• gnomAD v3: 9-127682381-TTC-T
• gnomAD v4: 9-127682381-TTC-T
• MyVariant Identifiers: chr9:g.130444661_130444662del (hg19) ; chr9:g.127682383_127682384del (hg38) ; chr9:g.127682382_127682383del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127682385_127682386del , CM000671.2:g.127682385_127682386del	GRCh38
NC_000009.11:g.130444664_130444665del , CM000671.1:g.130444664_130444665del	GRCh37
NC_000009.10:g.129484485_129484486del	NCBI36
NG_016623.1:g.75179_75180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.1506-21_1506-20del	ENSP00000515991.1:n.1506-21_1506-20del
ENST00000704681.1:c.1493-21_1493-20del	ENSP00000515992.1:n.1493-21_1493-20del
ENST00000373299.5:c.1548-21_1548-20del MANE Select	ENSP00000362396.2:n.1548-21_1548-20del
ENST00000373302.8:c.1548-21_1548-20del MANE Plus Clinical	ENSP00000362399.3:n.1548-21_1548-20del
ENST00000626539.3:c.1506-21_1506-20del	ENSP00000487211.2:n.1506-21_1506-20del
ENST00000635950.2:c.1548-21_1548-20del	ENSP00000490903.1:n.1548-21_1548-20del
ENST00000636509.2:c.*503-21_*503-20del	ENSP00000490810.1:n.*503-21_*503-20del
ENST00000636962.2:c.1548-21_1548-20del	ENSP00000489762.1:n.1548-21_1548-20del
ENST00000637060.2:c.*1190-21_*1190-20del	ENSP00000490674.2:n.*1190-21_*1190-20del
ENST00000637173.2:c.1506-21_1506-20del	ENSP00000490519.1:n.1506-21_1506-20del
ENST00000637464.2:c.*2412-21_*2412-20del	ENSP00000489655.2:n.*2412-21_*2412-20del
ENST00000637521.2:c.1506-21_1506-20del	ENSP00000489791.1:n.1506-21_1506-20del
ENST00000637953.1:c.1548-21_1548-20del	ENSP00000490613.1:n.1548-21_1548-20del
ENST00000647107.1:c.1490-21_1490-20del
ENST00000650920.1:c.1506-21_1506-20del	ENSP00000498834.1:n.1506-21_1506-20del
ENST00000373299.4:c.1548-21_1548-20del	ENSP00000362396.1:n.1548-21_1548-20del
ENST00000373302.7:c.1548-21_1548-20del	ENSP00000362399.3:n.1548-21_1548-20del
ENST00000494254.3:c.96-21_96-20del	ENSP00000485397.1:n.96-21_96-20del
ENST00000626416.2:n.1384-21_1384-20del
ENST00000628638.1:n.140-21_140-20del
NM_001032221.3:c.1548-21_1548-20del	NP_001027392.1:n.1548-21_1548-20del
NM_003165.3:c.1548-21_1548-20del	NP_003156.1:n.1548-21_1548-20del
NM_001032221.6:c.1548-21_1548-20del MANE Select	NP_001027392.1:n.1548-21_1548-20del
NM_001374306.2:c.1539-21_1539-20del	NP_001361235.1:n.1539-21_1539-20del
NM_001374307.2:c.1506-21_1506-20del	NP_001361236.1:n.1506-21_1506-20del
NM_001374308.2:c.1506-21_1506-20del	NP_001361237.1:n.1506-21_1506-20del
NM_001374309.2:c.1506-21_1506-20del	NP_001361238.1:n.1506-21_1506-20del
NM_001374310.2:c.1506-21_1506-20del	NP_001361239.1:n.1506-21_1506-20del
NM_001374311.2:c.1506-21_1506-20del	NP_001361240.1:n.1506-21_1506-20del
NM_001374312.2:c.1506-21_1506-20del	NP_001361241.1:n.1506-21_1506-20del
NM_001374313.2:c.1548-21_1548-20del	NP_001361242.1:n.1548-21_1548-20del
NM_001374314.1:c.1548-21_1548-20del	NP_001361243.1:n.1548-21_1548-20del
NM_001374315.2:c.1440-21_1440-20del	NP_001361244.1:n.1440-21_1440-20del
NM_003165.6:c.1548-21_1548-20del MANE Plus Clinical	NP_003156.1:n.1548-21_1548-20del