Canonical Allele Identifier: CA1879893407

Gene: STXBP1 PTRH1 MIR3911

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127690718_127690722delinsAAAGG , CM000671.2:g.127690718_127690722delinsAAAGG	GRCh38
NC_000009.11:g.130452997_130453001delinsAAAGG , CM000671.1:g.130452997_130453001delinsAAAGG	GRCh37
NC_000009.10:g.129492818_129492822delinsAAAGG	NCBI36
NG_016623.1:g.83512_83516delinsAAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.1661-57_1661-53delinsAAAGG (STXBP1)	ENSP00000515991.1:n.1661-57_1661-53delinsAAAGG
ENST00000704681.1:c.1774-57_1774-53delinsAAAGG (STXBP1)	ENSP00000515992.1:n.1774-57_1774-53delinsAAAGG
ENST00000373299.5:c.1703-57_1703-53delinsAAAGG (STXBP1) MANE Select	ENSP00000362396.2:n.1703-57_1703-53delinsAAAGG
ENST00000373302.8:c.*17-57_*17-53delinsAAAGG (STXBP1) MANE Plus Clinical	ENSP00000362399.3:n.*17-57_*17-53delinsAAAGG
ENST00000626539.3:c.1661-57_1661-53delinsAAAGG (STXBP1)	ENSP00000487211.2:n.1661-57_1661-53delinsAAAGG
ENST00000635950.2:c.1703-4276_1703-4272delinsAAAGG (STXBP1)	ENSP00000490903.1:n.1703-4276_1703-4272delinsAAAGG
ENST00000636509.2:c.*658-57_*658-53delinsAAAGG (STXBP1)	ENSP00000490810.1:n.*658-57_*658-53delinsAAAGG
ENST00000636962.2:c.1703-4276_1703-4272delinsAAAGG (STXBP1)	ENSP00000489762.1:n.1703-4276_1703-4272delinsAAAGG
ENST00000637060.2:c.*1345-57_*1345-53delinsAAAGG (STXBP1)	ENSP00000490674.2:n.*1345-57_*1345-53delinsAAAGG
ENST00000637173.2:c.1661-57_1661-53delinsAAAGG (STXBP1)	ENSP00000490519.1:n.1661-57_1661-53delinsAAAGG
ENST00000637464.2:c.*2567-57_*2567-53delinsAAAGG (STXBP1)	ENSP00000489655.2:n.*2567-57_*2567-53delinsAAAGG
ENST00000637521.2:c.*17-57_*17-53delinsAAAGG (STXBP1)	ENSP00000489791.1:n.*17-57_*17-53delinsAAAGG
ENST00000637953.1:c.*49-57_*49-53delinsAAAGG (STXBP1)	ENSP00000490613.1:n.*49-57_*49-53delinsAAAGG
ENST00000641641.1:c.136_140delinsCCTTT (PTRH1)	ENSP00000492921.1:n.136_140delinsCCTTT
ENST00000650920.1:c.*17-57_*17-53delinsAAAGG (STXBP1)	ENSP00000498834.1:n.*17-57_*17-53delinsAAAGG
ENST00000373299.4:c.1703-57_1703-53delinsAAAGG (STXBP1)	ENSP00000362396.1:n.1703-57_1703-53delinsAAAGG
ENST00000373302.7:c.*17-57_*17-53delinsAAAGG (STXBP1)	ENSP00000362399.3:n.*17-57_*17-53delinsAAAGG
ENST00000626416.2:n.1539-57_1539-53delinsAAAGG (STXBP1)
ENST00000628638.1:n.295-57_295-53delinsAAAGG (STXBP1)
ENST00000628768.1:n.585_589delinsAAAGG (STXBP1)
NM_001032221.3:c.1703-57_1703-53delinsAAAGG (STXBP1)	NP_001027392.1:n.1703-57_1703-53delinsAAAGG
NM_003165.3:c.*17-57_*17-53delinsAAAGG (STXBP1)	NP_003156.1:n.*17-57_*17-53delinsAAAGG
NR_037473.1:n.74_78delinsCCTTT (MIR3911)
NM_001032221.6:c.1703-57_1703-53delinsAAAGG (STXBP1) MANE Select	NP_001027392.1:n.1703-57_1703-53delinsAAAGG
NM_001374306.2:c.1694-57_1694-53delinsAAAGG (STXBP1)	NP_001361235.1:n.1694-57_1694-53delinsAAAGG
NM_001374307.2:c.*17-57_*17-53delinsAAAGG (STXBP1)	NP_001361236.1:n.*17-57_*17-53delinsAAAGG
NM_001374308.2:c.*17-57_*17-53delinsAAAGG (STXBP1)	NP_001361237.1:n.*17-57_*17-53delinsAAAGG
NM_001374309.2:c.1661-57_1661-53delinsAAAGG (STXBP1)	NP_001361238.1:n.1661-57_1661-53delinsAAAGG
NM_001374310.2:c.1661-57_1661-53delinsAAAGG (STXBP1)	NP_001361239.1:n.1661-57_1661-53delinsAAAGG
NM_001374311.2:c.1661-57_1661-53delinsAAAGG (STXBP1)	NP_001361240.1:n.1661-57_1661-53delinsAAAGG
NM_001374312.2:c.1661-57_1661-53delinsAAAGG (STXBP1)	NP_001361241.1:n.1661-57_1661-53delinsAAAGG
NM_001374313.2:c.*49-57_*49-53delinsAAAGG (STXBP1)	NP_001361242.1:n.*49-57_*49-53delinsAAAGG
NM_001374314.1:c.1703-4276_1703-4272delinsAAAGG (STXBP1)	NP_001361243.1:n.1703-4276_1703-4272delinsAAAGG
NM_001374315.2:c.*17-57_*17-53delinsAAAGG (STXBP1)	NP_001361244.1:n.*17-57_*17-53delinsAAAGG
NM_003165.6:c.*17-57_*17-53delinsAAAGG (STXBP1) MANE Plus Clinical	NP_003156.1:n.*17-57_*17-53delinsAAAGG