Canonical Allele Identifier: CA2580613698

Gene: SPTB

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64767767_64767768del , CM000676.2:g.64767767_64767768del	GRCh38
NC_000014.8:g.65234485_65234486del , CM000676.1:g.65234485_65234486del	GRCh37
NC_000014.7:g.64304238_64304239del	NCBI36
NG_016202.1:g.60386_60387del
NG_016202.2:g.117130_117131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.6119_6120del	ENSP00000374370.4:p.Thr2040SerfsTer12
ENST00000644917.1:c.6119_6120del MANE Select	ENSP00000495909.1:p.Thr2040SerfsTer12
ENST00000389720.3:c.6119_6120del	ENSP00000374370.3:p.Thr2040SerfsTer12
ENST00000389721.9:c.6119_6120del	ENSP00000374371.5:p.Thr2040SerfsTer12
ENST00000389722.7:c.6119_6120del	ENSP00000374372.3:p.Thr2040SerfsTer12
ENST00000542694.2:n.451_452del
ENST00000553938.5:c.2114_2115del	ENSP00000451324.1:p.Thr705SerfsTer12
ENST00000556626.5:c.6119_6120del	ENSP00000451752.1:p.Thr2040SerfsTer12
NM_000347.5:c.6119_6120del	NP_000338.3:p.Thr2040SerfsTer12
NM_001024858.2:c.6119_6120del	NP_001020029.1:p.Thr2040SerfsTer12
XM_005268023.3:c.6119_6120del	XP_005268080.1:p.Thr2040SerfsTer12
NM_001024858.3:c.6119_6120del	NP_001020029.1:p.Thr2040SerfsTer12
NM_001355436.2:c.6119_6120del MANE Select	NP_001342365.1:p.Thr2040SerfsTer12
NM_001355437.2:c.6119_6120del	NP_001342366.1:p.Thr2040SerfsTer12
XM_017021612.2:c.6119_6120del	XP_016877101.1:p.Thr2040SerfsTer12
XM_024449699.1:c.6119_6120del	XP_024305467.1:p.Thr2040SerfsTer12
NM_001024858.4:c.6119_6120del	NP_001020029.1:p.Thr2040SerfsTer12