Canonical Allele Identifier: CA2695211147

Gene: STXBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127682400_127682417delinsAT , CM000671.2:g.127682400_127682417delinsAT	GRCh38
NC_000009.11:g.130444679_130444696delinsAT , CM000671.1:g.130444679_130444696delinsAT	GRCh37
NC_000009.10:g.129484500_129484517delinsAT	NCBI36
NG_016623.1:g.75194_75211delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000704680.1:c.1506-6_1517delinsAT
ENST00000704681.1:c.1493-6_1504delinsAT
ENST00000373299.5:c.1548-6_1559delinsAT
ENST00000373302.8:c.1548-6_1559delinsAT
ENST00000626539.3:c.1506-6_1517delinsAT
ENST00000635950.2:c.1548-6_1559delinsAT
ENST00000636509.2:c.*503-6_*514delinsAT
ENST00000636962.2:c.1548-6_1559delinsAT
ENST00000637060.2:c.*1190-6_*1201delinsAT
ENST00000637173.2:c.1506-6_1517delinsAT
ENST00000637464.2:c.*2412-6_*2423delinsAT
ENST00000637521.2:c.1506-6_1517delinsAT
ENST00000637953.1:c.1548-6_1559delinsAT
ENST00000647107.1:c.1490-6_1501delinsAT
ENST00000650920.1:c.1506-6_1517delinsAT
ENST00000373299.4:c.1548-6_1559delinsAT
ENST00000373302.7:c.1548-6_1559delinsAT
ENST00000494254.3:c.96-6_107delinsAT
ENST00000626416.2:n.1384-6_1395delinsAT
ENST00000628638.1:n.140-6_151delinsAT
NM_001032221.3:c.1548-6_1559delinsAT
NM_003165.3:c.1548-6_1559delinsAT
NM_001032221.6:c.1548-6_1559delinsAT
NM_001374306.2:c.1539-6_1550delinsAT
NM_001374307.2:c.1506-6_1517delinsAT
NM_001374308.2:c.1506-6_1517delinsAT
NM_001374309.2:c.1506-6_1517delinsAT
NM_001374310.2:c.1506-6_1517delinsAT
NM_001374311.2:c.1506-6_1517delinsAT
NM_001374312.2:c.1506-6_1517delinsAT
NM_001374313.2:c.1548-6_1559delinsAT
NM_001374314.1:c.1548-6_1559delinsAT
NM_001374315.2:c.1440-6_1451delinsAT
NM_003165.6:c.1548-6_1559delinsAT