Canonical Allele Identifier: CA2124193867

Gene: STXBP6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.25010368_25010369delinsTC , CM000676.2:g.25010368_25010369delinsTC	GRCh38
NC_000014.8:g.25479574_25479575delinsTC , CM000676.1:g.25479574_25479575delinsTC	GRCh37
NC_000014.7:g.24549414_24549415delinsTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323944.10:c.-32-35519_-32-35518delinsGA MANE Select	ENSP00000324302.5:n.-32-35519_-32-35518delinsGA
ENST00000323944.9:c.-32-35519_-32-35518delinsGA	ENSP00000324302.5:n.-32-35519_-32-35518delinsGA
ENST00000396700.5:c.-33+156_-33+157delinsGA	ENSP00000379928.1:n.-33+156_-33+157delinsGA
ENST00000419632.6:c.-32-35519_-32-35518delinsGA	ENSP00000397212.2:n.-32-35519_-32-35518delinsGA
ENST00000546511.5:c.-32-35519_-32-35518delinsGA	ENSP00000449536.1:n.-32-35519_-32-35518delinsGA
ENST00000548182.1:c.-119-22397_-119-22396delinsGA	ENSP00000447268.1:n.-119-22397_-119-22396delinsGA
ENST00000550887.5:c.-154+156_-154+157delinsGA	ENSP00000449379.1:n.-154+156_-154+157delinsGA
NM_001304476.1:c.-33+156_-33+157delinsGA	NP_001291405.1:n.-33+156_-33+157delinsGA
NM_001304477.1:c.-32-35519_-32-35518delinsGA	NP_001291406.1:n.-32-35519_-32-35518delinsGA
NM_014178.7:c.-32-35519_-32-35518delinsGA	NP_054897.4:n.-32-35519_-32-35518delinsGA
XM_011536669.1:c.-87+39509_-87+39510delinsGA	XP_011534971.1:n.-87+39509_-87+39510delinsGA
NM_001351940.1:c.-83-22397_-83-22396delinsGA	NP_001338869.1:n.-83-22397_-83-22396delinsGA
NM_001351941.1:c.-32-35519_-32-35518delinsGA	NP_001338870.1:n.-32-35519_-32-35518delinsGA
NM_001351942.1:c.-108-33126_-108-33125delinsGA	NP_001338871.1:n.-108-33126_-108-33125delinsGA
NM_001351943.1:c.-108-33126_-108-33125delinsGA	NP_001338872.1:n.-108-33126_-108-33125delinsGA
XM_011536669.2:c.-87+39509_-87+39510delinsGA	XP_011534971.1:n.-87+39509_-87+39510delinsGA
XM_017021231.2:c.-32-35519_-32-35518delinsGA	XP_016876720.1:n.-32-35519_-32-35518delinsGA
XM_017021232.1:c.-84+156_-84+157delinsGA	XP_016876721.1:n.-84+156_-84+157delinsGA
XM_017021234.1:c.-84+22174_-84+22175delinsGA	XP_016876723.1:n.-84+22174_-84+22175delinsGA
XM_017021235.1:c.-33+156_-33+157delinsGA	XP_016876724.1:n.-33+156_-33+157delinsGA
XM_017021240.2:c.-33+22174_-33+22175delinsGA	XP_016876729.1:n.-33+22174_-33+22175delinsGA
XM_017021241.1:c.-33+34551_-33+34552delinsGA	XP_016876730.1:n.-33+34551_-33+34552delinsGA
XM_024449547.1:c.-109+156_-109+157delinsGA	XP_024305315.1:n.-109+156_-109+157delinsGA
NM_001304476.2:c.-33+156_-33+157delinsGA	NP_001291405.1:n.-33+156_-33+157delinsGA
NM_001304477.2:c.-32-35519_-32-35518delinsGA	NP_001291406.1:n.-32-35519_-32-35518delinsGA
NM_001351940.2:c.-83-22397_-83-22396delinsGA	NP_001338869.1:n.-83-22397_-83-22396delinsGA
NM_001351941.2:c.-32-35519_-32-35518delinsGA	NP_001338870.1:n.-32-35519_-32-35518delinsGA
NM_001351942.2:c.-108-33126_-108-33125delinsGA	NP_001338871.1:n.-108-33126_-108-33125delinsGA
NM_001351943.2:c.-108-33126_-108-33125delinsGA	NP_001338872.1:n.-108-33126_-108-33125delinsGA
NM_014178.8:c.-32-35519_-32-35518delinsGA	NP_054897.4:n.-32-35519_-32-35518delinsGA
NM_001304476.3:c.-33+156_-33+157delinsGA	NP_001291405.1:n.-33+156_-33+157delinsGA
NM_001304477.3:c.-32-35519_-32-35518delinsGA	NP_001291406.1:n.-32-35519_-32-35518delinsGA
NM_001351940.3:c.-119-22397_-119-22396delinsGA	NP_001338869.2:n.-119-22397_-119-22396delinsGA
NM_001351941.3:c.-32-35519_-32-35518delinsGA	NP_001338870.1:n.-32-35519_-32-35518delinsGA
NM_001351942.3:c.-108-33126_-108-33125delinsGA	NP_001338871.1:n.-108-33126_-108-33125delinsGA
NM_001351943.3:c.-108-33126_-108-33125delinsGA	NP_001338872.1:n.-108-33126_-108-33125delinsGA
NM_001394410.1:c.-32-35519_-32-35518delinsGA MANE Select	NP_001381339.1:n.-32-35519_-32-35518delinsGA
NM_001394411.1:c.-120+22174_-120+22175delinsGA	NP_001381340.1:n.-120+22174_-120+22175delinsGA
NM_001394412.1:c.-153-15385_-153-15384delinsGA	NP_001381341.1:n.-153-15385_-153-15384delinsGA
NM_001394413.1:c.-33+22174_-33+22175delinsGA	NP_001381342.1:n.-33+22174_-33+22175delinsGA
NM_001394414.1:c.-116-10968_-116-10967delinsGA	NP_001381343.1:n.-116-10968_-116-10967delinsGA
NM_001394415.1:c.-226-22397_-226-22396delinsGA	NP_001381344.1:n.-226-22397_-226-22396delinsGA
NM_001394416.1:c.-33+156_-33+157delinsGA	NP_001381345.1:n.-33+156_-33+157delinsGA
NM_001394417.1:c.-33+156_-33+157delinsGA	NP_001381346.1:n.-33+156_-33+157delinsGA
NM_001394418.1:c.-87+39509_-87+39510delinsGA	NP_001381347.1:n.-87+39509_-87+39510delinsGA
NM_001394419.1:c.-87+156_-87+157delinsGA	NP_001381348.1:n.-87+156_-87+157delinsGA
NM_001394420.1:c.-32-35519_-32-35518delinsGA	NP_001381349.1:n.-32-35519_-32-35518delinsGA
NM_014178.9:c.-32-35519_-32-35518delinsGA	NP_054897.4:n.-32-35519_-32-35518delinsGA