Canonical Allele Identifier: CA9928625

Gene: TUBB1

Linked Data

• dbSNP Id: rs759864014
• ExAC: 20:57599434 CGG / C
• gnomAD v2: 20-57599434-CGG-C
• gnomAD v3: 20-59024379-CGG-C
• gnomAD v4: 20-59024379-CGG-C
• MyVariant Identifiers: chr20:g.57599435_57599436del (hg19) ; chr20:g.59024381_59024382del (hg38) ; chr20:g.59024380_59024381del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59024382_59024383del , CM000682.2:g.59024382_59024383del	GRCh38
NC_000020.10:g.57599437_57599438del , CM000682.1:g.57599437_57599438del	GRCh37
NC_000020.9:g.57032832_57032833del	NCBI36
NG_023424.2:g.10129_10130del , LRG_581:g.10129_10130del

Transcript Alleles

HGVS	Amino-acid change
ENST00000217133.2:c.955_956del MANE Select	ENSP00000217133.1:p.Gly319GlnfsTer?
ENST00000217133.1:c.955_956del	ENSP00000217133.1:p.Gly319GlnfsTer?
NM_030773.3:c.955_956del , LRG_581t1:c.955_956del	NP_110400.1:p.Gly319GlnfsTer?
XM_017028085.1:c.889_890del	XP_016883574.1:p.Gly297GlnfsTer?
NM_030773.4:c.955_956del MANE Select	NP_110400.1:p.Gly319GlnfsTer?