Canonical Allele Identifier: CA1879919820

Gene: STXBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127675928_127675929delinsTC , CM000671.2:g.127675928_127675929delinsTC	GRCh38
NC_000009.11:g.130438207_130438208delinsTC , CM000671.1:g.130438207_130438208delinsTC	GRCh37
NC_000009.10:g.129478028_129478029delinsTC	NCBI36
NG_016623.1:g.68722_68723delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.1193_1194delinsTC	ENSP00000515991.1:p.Ile398=
ENST00000704681.1:c.1194+41_1194+42delinsTC	ENSP00000515992.1:n.1194+41_1194+42delinsTC
ENST00000373299.5:c.1235_1236delinsTC MANE Select	ENSP00000362396.2:p.Ile412=
ENST00000373302.8:c.1235_1236delinsTC MANE Plus Clinical	ENSP00000362399.3:p.Ile412=
ENST00000626539.3:c.1193_1194delinsTC	ENSP00000487211.2:p.Ile398=
ENST00000635950.2:c.1235_1236delinsTC	ENSP00000490903.1:p.Ile412=
ENST00000636509.2:c.*190_*191delinsTC	ENSP00000490810.1:n.*190_*191delinsTC
ENST00000636962.2:c.1235_1236delinsTC	ENSP00000489762.1:p.Ile412=
ENST00000637060.2:c.*877_*878delinsTC	ENSP00000490674.2:n.*877_*878delinsTC
ENST00000637173.2:c.1193_1194delinsTC	ENSP00000490519.1:p.Ile398=
ENST00000637464.2:c.*2099_*2100delinsTC	ENSP00000489655.2:n.*2099_*2100delinsTC
ENST00000637521.2:c.1193_1194delinsTC	ENSP00000489791.1:p.Ile398=
ENST00000637953.1:c.1235_1236delinsTC	ENSP00000490613.1:p.Ile412=
ENST00000647107.1:c.1177_1178delinsTC
ENST00000650920.1:c.1193_1194delinsTC	ENSP00000498834.1:p.Ile398=
ENST00000373299.4:c.1235_1236delinsTC	ENSP00000362396.1:p.Ile412=
ENST00000373302.7:c.1235_1236delinsTC	ENSP00000362399.3:p.Ile412=
ENST00000626416.2:n.1071_1072delinsTC
NM_001032221.3:c.1235_1236delinsTC	NP_001027392.1:p.Ile412=
NM_003165.3:c.1235_1236delinsTC	NP_003156.1:p.Ile412=
NM_001032221.6:c.1235_1236delinsTC MANE Select	NP_001027392.1:p.Ile412=
NM_001374306.2:c.1226_1227delinsTC	NP_001361235.1:p.Ile409=
NM_001374307.2:c.1193_1194delinsTC	NP_001361236.1:p.Ile398=
NM_001374308.2:c.1193_1194delinsTC	NP_001361237.1:p.Ile398=
NM_001374309.2:c.1193_1194delinsTC	NP_001361238.1:p.Ile398=
NM_001374310.2:c.1193_1194delinsTC	NP_001361239.1:p.Ile398=
NM_001374311.2:c.1193_1194delinsTC	NP_001361240.1:p.Ile398=
NM_001374312.2:c.1193_1194delinsTC	NP_001361241.1:p.Ile398=
NM_001374313.2:c.1235_1236delinsTC	NP_001361242.1:p.Ile412=
NM_001374314.1:c.1235_1236delinsTC	NP_001361243.1:p.Ile412=
NM_001374315.2:c.1127_1128delinsTC	NP_001361244.1:p.Ile376=
NM_003165.6:c.1235_1236delinsTC MANE Plus Clinical	NP_003156.1:p.Ile412=