Canonical Allele Identifier: CA278884

Gene: SPTB

Linked Data

• ClinVar Variation Id: 12833
• ClinVar RCV Id: RCV000013682
• dbSNP Id: rs863223303
• MyVariant Identifiers: chr14:g.65234464_65234465dupTC (hg19) ; chr14:g.65234463_65234464insTC (hg19) ; chr14:g.64767746_64767747dupTC (hg38) ; chr14:g.64767745_64767746insTC (hg38)
• PubMed: PMID:2070088 ; PMID:3580577

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64767748_64767749dup , CM000676.2:g.64767748_64767749dup	GRCh38
NC_000014.8:g.65234466_65234467dup , CM000676.1:g.65234466_65234467dup	GRCh37
NC_000014.7:g.64304219_64304220dup	NCBI36
NG_016202.1:g.60402_60403dup
NG_016202.2:g.117146_117147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.6135_6136dup	ENSP00000374370.4:p.Lys2046ArgfsTer?
ENST00000644917.1:c.6135_6136dup MANE Select	ENSP00000495909.1:p.Lys2046ArgfsTer?
ENST00000389720.3:c.6135_6136dup	ENSP00000374370.3:p.Lys2046ArgfsTer?
ENST00000389721.9:c.6135_6136dup	ENSP00000374371.5:p.Lys2046ArgfsTer?
ENST00000389722.7:c.6135_6136dup	ENSP00000374372.3:p.Lys2046ArgfsTer?
ENST00000542694.2:n.467_468dup
ENST00000553938.5:c.2130_2131dup	ENSP00000451324.1:p.Lys711ArgfsTer?
ENST00000556626.5:c.6135_6136dup	ENSP00000451752.1:p.Lys2046ArgfsTer?
NM_000347.5:c.6135_6136dup	NP_000338.3:p.Lys2046ArgfsTer?
NM_001024858.2:c.6135_6136dup	NP_001020029.1:p.Lys2046ArgfsTer?
XM_005268023.3:c.6135_6136dup	XP_005268080.1:p.Lys2046ArgfsTer?
NM_001024858.3:c.6135_6136dup	NP_001020029.1:p.Lys2046ArgfsTer?
NM_001355436.2:c.6135_6136dup MANE Select	NP_001342365.1:p.Lys2046ArgfsTer?
NM_001355437.2:c.6135_6136dup	NP_001342366.1:p.Lys2046ArgfsTer?
XM_017021612.2:c.6135_6136dup	XP_016877101.1:p.Lys2046ArgfsTer?
XM_024449699.1:c.6135_6136dup	XP_024305467.1:p.Lys2046ArgfsTer?
NM_001024858.4:c.6135_6136dup	NP_001020029.1:p.Lys2046ArgfsTer?