Canonical Allele Identifier: CA2580613700

Gene: SPTB

Linked Data

• ClinVar Variation Id: 2433991
• ClinVar RCV Id: RCV003132805

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64772772_64772773del , CM000676.2:g.64772772_64772773del	GRCh38
NC_000014.8:g.65239490_65239491del , CM000676.1:g.65239490_65239491del	GRCh37
NC_000014.7:g.64309243_64309244del	NCBI36
NG_016202.1:g.55378_55379del
NG_016202.2:g.112122_112123del

Transcript Alleles

HGVS	Amino-acid change
ENST00000389720.4:c.5362_5363del	ENSP00000374370.4:p.Thr1788AlafsTer10
ENST00000644917.1:c.5362_5363del MANE Select	ENSP00000495909.1:p.Thr1788AlafsTer10
ENST00000389720.3:c.5362_5363del	ENSP00000374370.3:p.Thr1788AlafsTer10
ENST00000389721.9:c.5362_5363del	ENSP00000374371.5:p.Thr1788AlafsTer10
ENST00000389722.7:c.5362_5363del	ENSP00000374372.3:p.Thr1788AlafsTer10
ENST00000553938.5:c.1357_1358del	ENSP00000451324.1:p.Thr453AlafsTer10
ENST00000556626.5:c.5362_5363del	ENSP00000451752.1:p.Thr1788AlafsTer10
NM_000347.5:c.5362_5363del	NP_000338.3:p.Thr1788AlafsTer10
NM_001024858.2:c.5362_5363del	NP_001020029.1:p.Thr1788AlafsTer10
XM_005268023.3:c.5362_5363del	XP_005268080.1:p.Thr1788AlafsTer10
NM_001024858.3:c.5362_5363del	NP_001020029.1:p.Thr1788AlafsTer10
NM_001355436.2:c.5362_5363del MANE Select	NP_001342365.1:p.Thr1788AlafsTer10
NM_001355437.2:c.5362_5363del	NP_001342366.1:p.Thr1788AlafsTer10
XM_017021612.2:c.5362_5363del	XP_016877101.1:p.Thr1788AlafsTer10
XM_024449699.1:c.5362_5363del	XP_024305467.1:p.Thr1788AlafsTer10
NM_001024858.4:c.5362_5363del	NP_001020029.1:p.Thr1788AlafsTer10