Canonical Allele Identifier: CA2697553937

Gene: SPTB

Linked Data

• ClinVar Variation Id: 2683448
• ClinVar RCV Id: RCV003480268

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64767714dup , CM000676.2:g.64767714dup	GRCh38
NC_000014.8:g.65234432dup , CM000676.1:g.65234432dup	GRCh37
NC_000014.7:g.64304185dup	NCBI36
NG_016202.1:g.60435dup
NG_016202.2:g.117179dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000389720.4:c.6168dup	ENSP00000374370.4:p.Ser2057ValfsTer19
ENST00000644917.1:c.6168dup MANE Select	ENSP00000495909.1:p.Ser2057ValfsTer19
ENST00000389720.3:c.6168dup	ENSP00000374370.3:p.Ser2057ValfsTer?
ENST00000389721.9:c.6168dup	ENSP00000374371.5:p.Ser2057ValfsTer19
ENST00000389722.7:c.6168dup	ENSP00000374372.3:p.Ser2057ValfsTer19
ENST00000542694.2:n.500dup
ENST00000553938.5:c.2163dup	ENSP00000451324.1:p.Ser722ValfsTer19
ENST00000556626.5:c.6168dup	ENSP00000451752.1:p.Ser2057ValfsTer19
NM_000347.5:c.6168dup	NP_000338.3:p.Ser2057ValfsTer19
NM_001024858.2:c.6168dup	NP_001020029.1:p.Ser2057ValfsTer19
XM_005268023.3:c.6168dup	XP_005268080.1:p.Ser2057ValfsTer19
NM_001024858.3:c.6168dup	NP_001020029.1:p.Ser2057ValfsTer19
NM_001355436.2:c.6168dup MANE Select	NP_001342365.1:p.Ser2057ValfsTer19
NM_001355437.2:c.6168dup	NP_001342366.1:p.Ser2057ValfsTer19
XM_017021612.2:c.6168dup	XP_016877101.1:p.Ser2057ValfsTer19
XM_024449699.1:c.6168dup	XP_024305467.1:p.Ser2057ValfsTer19
NM_001024858.4:c.6168dup	NP_001020029.1:p.Ser2057ValfsTer19