Canonical Allele Identifier: CA613066311

Gene: STXBP6

Linked Data

• dbSNP Id: rs1167457134
• gnomAD v2: 14-25479558-TC-T
• gnomAD v3: 14-25010352-TC-T
• gnomAD v4: 14-25010352-TC-T
• MyVariant Identifiers: chr14:g.25479559del (hg19) ; chr14:g.25010353del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.25010355del , CM000676.2:g.25010355del	GRCh38
NC_000014.8:g.25479561del , CM000676.1:g.25479561del	GRCh37
NC_000014.7:g.24549401del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000323944.10:c.-32-35503del MANE Select	ENSP00000324302.5:n.-32-35503del
ENST00000323944.9:c.-32-35503del	ENSP00000324302.5:n.-32-35503del
ENST00000396700.5:c.-33+172del	ENSP00000379928.1:n.-33+172del
ENST00000419632.6:c.-32-35503del	ENSP00000397212.2:n.-32-35503del
ENST00000546511.5:c.-32-35503del	ENSP00000449536.1:n.-32-35503del
ENST00000548182.1:c.-119-22381del	ENSP00000447268.1:n.-119-22381del
ENST00000550887.5:c.-154+172del	ENSP00000449379.1:n.-154+172del
NM_001304476.1:c.-33+172del	NP_001291405.1:n.-33+172del
NM_001304477.1:c.-32-35503del	NP_001291406.1:n.-32-35503del
NM_014178.7:c.-32-35503del	NP_054897.4:n.-32-35503del
XM_011536669.1:c.-87+39525del	XP_011534971.1:n.-87+39525del
NM_001351940.1:c.-83-22381del	NP_001338869.1:n.-83-22381del
NM_001351941.1:c.-32-35503del	NP_001338870.1:n.-32-35503del
NM_001351942.1:c.-108-33110del	NP_001338871.1:n.-108-33110del
NM_001351943.1:c.-108-33110del	NP_001338872.1:n.-108-33110del
XM_011536669.2:c.-87+39525del	XP_011534971.1:n.-87+39525del
XM_017021231.2:c.-32-35503del	XP_016876720.1:n.-32-35503del
XM_017021232.1:c.-84+172del	XP_016876721.1:n.-84+172del
XM_017021234.1:c.-84+22190del	XP_016876723.1:n.-84+22190del
XM_017021235.1:c.-33+172del	XP_016876724.1:n.-33+172del
XM_017021240.2:c.-33+22190del	XP_016876729.1:n.-33+22190del
XM_017021241.1:c.-33+34567del	XP_016876730.1:n.-33+34567del
XM_024449547.1:c.-109+172del	XP_024305315.1:n.-109+172del
NM_001304476.2:c.-33+172del	NP_001291405.1:n.-33+172del
NM_001304477.2:c.-32-35503del	NP_001291406.1:n.-32-35503del
NM_001351940.2:c.-83-22381del	NP_001338869.1:n.-83-22381del
NM_001351941.2:c.-32-35503del	NP_001338870.1:n.-32-35503del
NM_001351942.2:c.-108-33110del	NP_001338871.1:n.-108-33110del
NM_001351943.2:c.-108-33110del	NP_001338872.1:n.-108-33110del
NM_014178.8:c.-32-35503del	NP_054897.4:n.-32-35503del
NM_001304476.3:c.-33+172del	NP_001291405.1:n.-33+172del
NM_001304477.3:c.-32-35503del	NP_001291406.1:n.-32-35503del
NM_001351940.3:c.-119-22381del	NP_001338869.2:n.-119-22381del
NM_001351941.3:c.-32-35503del	NP_001338870.1:n.-32-35503del
NM_001351942.3:c.-108-33110del	NP_001338871.1:n.-108-33110del
NM_001351943.3:c.-108-33110del	NP_001338872.1:n.-108-33110del
NM_001394410.1:c.-32-35503del MANE Select	NP_001381339.1:n.-32-35503del
NM_001394411.1:c.-120+22190del	NP_001381340.1:n.-120+22190del
NM_001394412.1:c.-153-15369del	NP_001381341.1:n.-153-15369del
NM_001394413.1:c.-33+22190del	NP_001381342.1:n.-33+22190del
NM_001394414.1:c.-116-10952del	NP_001381343.1:n.-116-10952del
NM_001394415.1:c.-226-22381del	NP_001381344.1:n.-226-22381del
NM_001394416.1:c.-33+172del	NP_001381345.1:n.-33+172del
NM_001394417.1:c.-33+172del	NP_001381346.1:n.-33+172del
NM_001394418.1:c.-87+39525del	NP_001381347.1:n.-87+39525del
NM_001394419.1:c.-87+172del	NP_001381348.1:n.-87+172del
NM_001394420.1:c.-32-35503del	NP_001381349.1:n.-32-35503del
NM_014178.9:c.-32-35503del	NP_054897.4:n.-32-35503del