Canonical Allele Identifier: CA1879919625

Gene: STXBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127675793_127675798delinsGTTTTC , CM000671.2:g.127675793_127675798delinsGTTTTC	GRCh38
NC_000009.11:g.130438072_130438077delinsGTTTTC , CM000671.1:g.130438072_130438077delinsGTTTTC	GRCh37
NC_000009.10:g.129477893_129477898delinsGTTTTC	NCBI36
NG_016623.1:g.68587_68592delinsGTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.1069-11_1069-6delinsGTTTTC	ENSP00000515991.1:n.1069-11_1069-6delinsGTTTTC
ENST00000704681.1:c.1111-11_1111-6delinsGTTTTC	ENSP00000515992.1:n.1111-11_1111-6delinsGTTTTC
ENST00000373299.5:c.1111-11_1111-6delinsGTTTTC MANE Select	ENSP00000362396.2:n.1111-11_1111-6delinsGTTTTC
ENST00000373302.8:c.1111-11_1111-6delinsGTTTTC MANE Plus Clinical	ENSP00000362399.3:n.1111-11_1111-6delinsGTTTTC
ENST00000626539.3:c.1069-11_1069-6delinsGTTTTC	ENSP00000487211.2:n.1069-11_1069-6delinsGTTTTC
ENST00000635950.2:c.1111-11_1111-6delinsGTTTTC	ENSP00000490903.1:n.1111-11_1111-6delinsGTTTTC
ENST00000636509.2:c.*66-11_*66-6delinsGTTTTC	ENSP00000490810.1:n.*66-11_*66-6delinsGTTTTC
ENST00000636962.2:c.1111-11_1111-6delinsGTTTTC	ENSP00000489762.1:n.1111-11_1111-6delinsGTTTTC
ENST00000637060.2:c.*753-11_*753-6delinsGTTTTC	ENSP00000490674.2:n.*753-11_*753-6delinsGTTTTC
ENST00000637173.2:c.1069-11_1069-6delinsGTTTTC	ENSP00000490519.1:n.1069-11_1069-6delinsGTTTTC
ENST00000637464.2:c.*1975-11_*1975-6delinsGTTTTC	ENSP00000489655.2:n.*1975-11_*1975-6delinsGTTTTC
ENST00000637521.2:c.1069-11_1069-6delinsGTTTTC	ENSP00000489791.1:n.1069-11_1069-6delinsGTTTTC
ENST00000637953.1:c.1111-11_1111-6delinsGTTTTC	ENSP00000490613.1:n.1111-11_1111-6delinsGTTTTC
ENST00000647107.1:c.1053-11_1053-6delinsGTTTTC
ENST00000650920.1:c.1069-11_1069-6delinsGTTTTC	ENSP00000498834.1:n.1069-11_1069-6delinsGTTTTC
ENST00000373299.4:c.1111-11_1111-6delinsGTTTTC	ENSP00000362396.1:n.1111-11_1111-6delinsGTTTTC
ENST00000373302.7:c.1111-11_1111-6delinsGTTTTC	ENSP00000362399.3:n.1111-11_1111-6delinsGTTTTC
ENST00000626416.2:n.947-11_947-6delinsGTTTTC
NM_001032221.3:c.1111-11_1111-6delinsGTTTTC	NP_001027392.1:n.1111-11_1111-6delinsGTTTTC
NM_003165.3:c.1111-11_1111-6delinsGTTTTC	NP_003156.1:n.1111-11_1111-6delinsGTTTTC
NM_001032221.6:c.1111-11_1111-6delinsGTTTTC MANE Select	NP_001027392.1:n.1111-11_1111-6delinsGTTTTC
NM_001374306.2:c.1102-11_1102-6delinsGTTTTC	NP_001361235.1:n.1102-11_1102-6delinsGTTTTC
NM_001374307.2:c.1069-11_1069-6delinsGTTTTC	NP_001361236.1:n.1069-11_1069-6delinsGTTTTC
NM_001374308.2:c.1069-11_1069-6delinsGTTTTC	NP_001361237.1:n.1069-11_1069-6delinsGTTTTC
NM_001374309.2:c.1069-11_1069-6delinsGTTTTC	NP_001361238.1:n.1069-11_1069-6delinsGTTTTC
NM_001374310.2:c.1069-11_1069-6delinsGTTTTC	NP_001361239.1:n.1069-11_1069-6delinsGTTTTC
NM_001374311.2:c.1069-11_1069-6delinsGTTTTC	NP_001361240.1:n.1069-11_1069-6delinsGTTTTC
NM_001374312.2:c.1069-11_1069-6delinsGTTTTC	NP_001361241.1:n.1069-11_1069-6delinsGTTTTC
NM_001374313.2:c.1111-11_1111-6delinsGTTTTC	NP_001361242.1:n.1111-11_1111-6delinsGTTTTC
NM_001374314.1:c.1111-11_1111-6delinsGTTTTC	NP_001361243.1:n.1111-11_1111-6delinsGTTTTC
NM_001374315.2:c.1003-11_1003-6delinsGTTTTC	NP_001361244.1:n.1003-11_1003-6delinsGTTTTC
NM_003165.6:c.1111-11_1111-6delinsGTTTTC MANE Plus Clinical	NP_003156.1:n.1111-11_1111-6delinsGTTTTC