Canonical Allele Identifier: CA2695219391

Gene: SPTB

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64767715_64767722del , CM000676.2:g.64767715_64767722del	GRCh38
NC_000014.8:g.65234433_65234440del , CM000676.1:g.65234433_65234440del	GRCh37
NC_000014.7:g.64304186_64304193del	NCBI36
NG_016202.1:g.60427_60434del
NG_016202.2:g.117171_117178del

Transcript Alleles

HGVS	Amino-acid change
ENST00000389720.4:c.6160_6167del	ENSP00000374370.4:p.Phe2054ValfsTer19
ENST00000644917.1:c.6160_6167del MANE Select	ENSP00000495909.1:p.Phe2054ValfsTer19
ENST00000389720.3:c.6160_6167del	ENSP00000374370.3:p.Phe2054ValfsTer?
ENST00000389721.9:c.6160_6167del	ENSP00000374371.5:p.Phe2054ValfsTer19
ENST00000389722.7:c.6160_6167del	ENSP00000374372.3:p.Phe2054ValfsTer19
ENST00000542694.2:n.492_499del
ENST00000553938.5:c.2155_2162del	ENSP00000451324.1:p.Phe719ValfsTer19
ENST00000556626.5:c.6160_6167del	ENSP00000451752.1:p.Phe2054ValfsTer19
NM_000347.5:c.6160_6167del	NP_000338.3:p.Phe2054ValfsTer19
NM_001024858.2:c.6160_6167del	NP_001020029.1:p.Phe2054ValfsTer19
XM_005268023.3:c.6160_6167del	XP_005268080.1:p.Phe2054ValfsTer19
NM_001024858.3:c.6160_6167del	NP_001020029.1:p.Phe2054ValfsTer19
NM_001355436.2:c.6160_6167del MANE Select	NP_001342365.1:p.Phe2054ValfsTer19
NM_001355437.2:c.6160_6167del	NP_001342366.1:p.Phe2054ValfsTer19
XM_017021612.2:c.6160_6167del	XP_016877101.1:p.Phe2054ValfsTer19
XM_024449699.1:c.6160_6167del	XP_024305467.1:p.Phe2054ValfsTer19
NM_001024858.4:c.6160_6167del	NP_001020029.1:p.Phe2054ValfsTer19