Canonical Allele Identifier: CA658798222

Gene: SPTB

Linked Data

• ClinVar Variation Id: 523359
• ClinVar RCV Id: RCV000626665
• dbSNP Id: rs1555367318
• MyVariant Identifiers: chr14:g.65237597_65237607del (hg19) ; chr14:g.64770879_64770889del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64770883_64770893del , CM000676.2:g.64770883_64770893del	GRCh38
NC_000014.8:g.65237601_65237611del , CM000676.1:g.65237601_65237611del	GRCh37
NC_000014.7:g.64307354_64307364del	NCBI36
NG_016202.1:g.57260_57270del
NG_016202.2:g.114004_114014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.5794_5798+6del
ENST00000644917.1:c.5794_5798+6del
ENST00000389720.3:c.5794_5798+6del
ENST00000389721.9:c.5794_5798+6del
ENST00000389722.7:c.5794_5798+6del
ENST00000553938.5:c.1789_1793+6del
ENST00000556626.5:c.5794_5798+6del
NM_000347.5:c.5794_5798+6del
NM_001024858.2:c.5794_5798+6del
XM_005268023.3:c.5794_5798+6del
NM_001024858.3:c.5794_5798+6del
NM_001355436.2:c.5794_5798+6del
NM_001355437.2:c.5794_5798+6del
XM_017021612.2:c.5794_5798+6del
XM_024449699.1:c.5794_5798+6del
NM_001024858.4:c.5794_5798+6del