Canonical Allele Identifier: CA2625262833

Gene: SPTB

Linked Data

• gnomAD v4: 14-64767731-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64767733del , CM000676.2:g.64767733del	GRCh38
NC_000014.8:g.65234451del , CM000676.1:g.65234451del	GRCh37
NC_000014.7:g.64304204del	NCBI36
NG_016202.1:g.60417del
NG_016202.2:g.117161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.6150del	ENSP00000374370.4:p.Arg2050SerfsTer27
ENST00000644917.1:c.6150del MANE Select	ENSP00000495909.1:p.Arg2050SerfsTer27
ENST00000389720.3:c.6150del	ENSP00000374370.3:p.Arg2050SerfsTer?
ENST00000389721.9:c.6150del	ENSP00000374371.5:p.Arg2050SerfsTer27
ENST00000389722.7:c.6150del	ENSP00000374372.3:p.Arg2050SerfsTer27
ENST00000542694.2:n.482del
ENST00000553938.5:c.2145del	ENSP00000451324.1:p.Arg715SerfsTer27
ENST00000556626.5:c.6150del	ENSP00000451752.1:p.Arg2050SerfsTer27
NM_000347.5:c.6150del	NP_000338.3:p.Arg2050SerfsTer27
NM_001024858.2:c.6150del	NP_001020029.1:p.Arg2050SerfsTer27
XM_005268023.3:c.6150del	XP_005268080.1:p.Arg2050SerfsTer27
NM_001024858.3:c.6150del	NP_001020029.1:p.Arg2050SerfsTer27
NM_001355436.2:c.6150del MANE Select	NP_001342365.1:p.Arg2050SerfsTer27
NM_001355437.2:c.6150del	NP_001342366.1:p.Arg2050SerfsTer27
XM_017021612.2:c.6150del	XP_016877101.1:p.Arg2050SerfsTer27
XM_024449699.1:c.6150del	XP_024305467.1:p.Arg2050SerfsTer27
NM_001024858.4:c.6150del	NP_001020029.1:p.Arg2050SerfsTer27