Canonical Allele Identifier: CA2695219408
Gene: SPTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64772771dup , CM000676.2:g.64772771dup GRCh38
NC_000014.8:g.65239489dup , CM000676.1:g.65239489dup GRCh37
NC_000014.7:g.64309242dup NCBI36
NG_016202.1:g.55378dup
NG_016202.2:g.112122dup

Transcript Alleles

HGVS Amino-acid change
ENST00000389720.4:c.5362dup ENSP00000374370.4:p.Thr1788AsnfsTer11
ENST00000644917.1:c.5362dup MANE Select ENSP00000495909.1:p.Thr1788AsnfsTer11
ENST00000389720.3:c.5362dup ENSP00000374370.3:p.Thr1788AsnfsTer11
ENST00000389721.9:c.5362dup ENSP00000374371.5:p.Thr1788AsnfsTer11
ENST00000389722.7:c.5362dup ENSP00000374372.3:p.Thr1788AsnfsTer11
ENST00000553938.5:c.1357dup ENSP00000451324.1:p.Thr453AsnfsTer11
ENST00000556626.5:c.5362dup ENSP00000451752.1:p.Thr1788AsnfsTer11
NM_000347.5:c.5362dup NP_000338.3:p.Thr1788AsnfsTer11
NM_001024858.2:c.5362dup NP_001020029.1:p.Thr1788AsnfsTer11
XM_005268023.3:c.5362dup XP_005268080.1:p.Thr1788AsnfsTer11
NM_001024858.3:c.5362dup NP_001020029.1:p.Thr1788AsnfsTer11
NM_001355436.2:c.5362dup MANE Select NP_001342365.1:p.Thr1788AsnfsTer11
NM_001355437.2:c.5362dup NP_001342366.1:p.Thr1788AsnfsTer11
XM_017021612.2:c.5362dup XP_016877101.1:p.Thr1788AsnfsTer11
XM_024449699.1:c.5362dup XP_024305467.1:p.Thr1788AsnfsTer11
NM_001024858.4:c.5362dup NP_001020029.1:p.Thr1788AsnfsTer11