Canonical Allele Identifier: CA2695211152

Gene: STXBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127682554_127682555delinsA , CM000671.2:g.127682554_127682555delinsA	GRCh38
NC_000009.11:g.130444833_130444834delinsA , CM000671.1:g.130444833_130444834delinsA	GRCh37
NC_000009.10:g.129484654_129484655delinsA	NCBI36
NG_016623.1:g.75348_75349delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.1654_1655delinsA	ENSP00000515991.1:p.Leu552ArgfsTer2
ENST00000704681.1:c.1641_1642delinsA	ENSP00000515992.1:n.1641_1642delinsA
ENST00000373299.5:c.1696_1697delinsA MANE Select	ENSP00000362396.2:p.Leu566ArgfsTer2
ENST00000373302.8:c.1696_1697delinsA MANE Plus Clinical	ENSP00000362399.3:p.Leu566ArgfsTer2
ENST00000626539.3:c.1654_1655delinsA	ENSP00000487211.2:p.Leu552ArgfsTer2
ENST00000635950.2:c.1696_1697delinsA	ENSP00000490903.1:p.Leu566ArgfsTer2
ENST00000636509.2:c.*651_*652delinsA	ENSP00000490810.1:n.*651_*652delinsA
ENST00000636962.2:c.1696_1697delinsA	ENSP00000489762.1:p.Leu566ArgfsTer2
ENST00000637060.2:c.*1338_*1339delinsA	ENSP00000490674.2:n.*1338_*1339delinsA
ENST00000637173.2:c.1654_1655delinsA	ENSP00000490519.1:p.Leu552ArgfsTer2
ENST00000637464.2:c.*2560_*2561delinsA	ENSP00000489655.2:n.*2560_*2561delinsA
ENST00000637521.2:c.1654_1655delinsA	ENSP00000489791.1:p.Leu552ArgfsTer2
ENST00000637953.1:c.1696_1697delinsA	ENSP00000490613.1:p.Leu566ArgfsTer2
ENST00000647107.1:c.1638_1639delinsA
ENST00000650920.1:c.1654_1655delinsA	ENSP00000498834.1:p.Leu552ArgfsTer2
ENST00000373299.4:c.1696_1697delinsA	ENSP00000362396.1:p.Leu566ArgfsTer2
ENST00000373302.7:c.1696_1697delinsA	ENSP00000362399.3:p.Leu566ArgfsTer2
ENST00000494254.3:c.244_245delinsA	ENSP00000485397.1:p.Leu82ArgfsTer2
ENST00000626416.2:n.1532_1533delinsA
ENST00000628638.1:n.288_289delinsA
NM_001032221.3:c.1696_1697delinsA	NP_001027392.1:p.Leu566ArgfsTer2
NM_003165.3:c.1696_1697delinsA	NP_003156.1:p.Leu566ArgfsTer2
NM_001032221.6:c.1696_1697delinsA MANE Select	NP_001027392.1:p.Leu566ArgfsTer2
NM_001374306.2:c.1687_1688delinsA	NP_001361235.1:p.Leu563ArgfsTer2
NM_001374307.2:c.1654_1655delinsA	NP_001361236.1:p.Leu552ArgfsTer2
NM_001374308.2:c.1654_1655delinsA	NP_001361237.1:p.Leu552ArgfsTer2
NM_001374309.2:c.1654_1655delinsA	NP_001361238.1:p.Leu552ArgfsTer2
NM_001374310.2:c.1654_1655delinsA	NP_001361239.1:p.Leu552ArgfsTer2
NM_001374311.2:c.1654_1655delinsA	NP_001361240.1:p.Leu552ArgfsTer2
NM_001374312.2:c.1654_1655delinsA	NP_001361241.1:p.Leu552ArgfsTer2
NM_001374313.2:c.1696_1697delinsA	NP_001361242.1:p.Leu566ArgfsTer2
NM_001374314.1:c.1696_1697delinsA	NP_001361243.1:p.Leu566ArgfsTer2
NM_001374315.2:c.1588_1589delinsA	NP_001361244.1:p.Leu530ArgfsTer2
NM_003165.6:c.1696_1697delinsA MANE Plus Clinical	NP_003156.1:p.Leu566ArgfsTer2