Canonical Allele Identifier: CA2579458869

Gene: STXBP1

Linked Data

• gnomAD v4: 9-127682586-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127682589_127682590del , CM000671.2:g.127682589_127682590del	GRCh38
NC_000009.11:g.130444868_130444869del , CM000671.1:g.130444868_130444869del	GRCh37
NC_000009.10:g.129484689_129484690del	NCBI36
NG_016623.1:g.75383_75384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.1660+29_1660+30del	ENSP00000515991.1:n.1660+29_1660+30del
ENST00000704681.1:c.1647+29_1647+30del	ENSP00000515992.1:n.1647+29_1647+30del
ENST00000373299.5:c.1702+29_1702+30del MANE Select	ENSP00000362396.2:n.1702+29_1702+30del
ENST00000373302.8:c.1702+29_1702+30del MANE Plus Clinical	ENSP00000362399.3:n.1702+29_1702+30del
ENST00000626539.3:c.1660+29_1660+30del	ENSP00000487211.2:n.1660+29_1660+30del
ENST00000635950.2:c.1702+29_1702+30del	ENSP00000490903.1:n.1702+29_1702+30del
ENST00000636509.2:c.*657+29_*657+30del	ENSP00000490810.1:n.*657+29_*657+30del
ENST00000636962.2:c.1702+29_1702+30del	ENSP00000489762.1:n.1702+29_1702+30del
ENST00000637060.2:c.*1344+29_*1344+30del	ENSP00000490674.2:n.*1344+29_*1344+30del
ENST00000637173.2:c.1660+29_1660+30del	ENSP00000490519.1:n.1660+29_1660+30del
ENST00000637464.2:c.*2566+29_*2566+30del	ENSP00000489655.2:n.*2566+29_*2566+30del
ENST00000637521.2:c.1660+29_1660+30del	ENSP00000489791.1:n.1660+29_1660+30del
ENST00000637953.1:c.1702+29_1702+30del	ENSP00000490613.1:n.1702+29_1702+30del
ENST00000647107.1:c.1644+29_1644+30del
ENST00000650920.1:c.1660+29_1660+30del	ENSP00000498834.1:n.1660+29_1660+30del
ENST00000373299.4:c.1702+29_1702+30del	ENSP00000362396.1:n.1702+29_1702+30del
ENST00000373302.7:c.1702+29_1702+30del	ENSP00000362399.3:n.1702+29_1702+30del
ENST00000494254.3:c.250+29_250+30del	ENSP00000485397.1:n.250+29_250+30del
ENST00000626416.2:n.1538+29_1538+30del
ENST00000628638.1:n.294+29_294+30del
NM_001032221.3:c.1702+29_1702+30del	NP_001027392.1:n.1702+29_1702+30del
NM_003165.3:c.1702+29_1702+30del	NP_003156.1:n.1702+29_1702+30del
NM_001032221.6:c.1702+29_1702+30del MANE Select	NP_001027392.1:n.1702+29_1702+30del
NM_001374306.2:c.1693+29_1693+30del	NP_001361235.1:n.1693+29_1693+30del
NM_001374307.2:c.1660+29_1660+30del	NP_001361236.1:n.1660+29_1660+30del
NM_001374308.2:c.1660+29_1660+30del	NP_001361237.1:n.1660+29_1660+30del
NM_001374309.2:c.1660+29_1660+30del	NP_001361238.1:n.1660+29_1660+30del
NM_001374310.2:c.1660+29_1660+30del	NP_001361239.1:n.1660+29_1660+30del
NM_001374311.2:c.1660+29_1660+30del	NP_001361240.1:n.1660+29_1660+30del
NM_001374312.2:c.1660+29_1660+30del	NP_001361241.1:n.1660+29_1660+30del
NM_001374313.2:c.1702+29_1702+30del	NP_001361242.1:n.1702+29_1702+30del
NM_001374314.1:c.1702+29_1702+30del	NP_001361243.1:n.1702+29_1702+30del
NM_001374315.2:c.1594+29_1594+30del	NP_001361244.1:n.1594+29_1594+30del
NM_003165.6:c.1702+29_1702+30del MANE Plus Clinical	NP_003156.1:n.1702+29_1702+30del