Canonical Allele Identifier: CA636607945
Gene: TUBB1 HGNC NCBI

Linked Data

dbSNP Id: rs1279705333
gnomAD v2: 20-57599161-CACCT-C
gnomAD v4: 20-59024106-CACCT-C
MyVariant Identifiers: chr20:g.57599162_57599165del (hg19) chr20:g.59024107_59024110del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59024108_59024111del , CM000682.2:g.59024108_59024111del GRCh38
NC_000020.10:g.57599163_57599166del , CM000682.1:g.57599163_57599166del GRCh37
NC_000020.9:g.57032558_57032561del NCBI36
NG_023424.2:g.9855_9858del , LRG_581:g.9855_9858del

Transcript Alleles

HGVS Amino-acid change
ENST00000217133.2:c.681_684del MANE Select ENSP00000217133.1:p.His227GlnfsTer4
ENST00000217133.1:c.681_684del ENSP00000217133.1:p.His227GlnfsTer4
NM_030773.3:c.681_684del , LRG_581t1:c.681_684del NP_110400.1:p.His227GlnfsTer4
XM_017028085.1:c.615_618del XP_016883574.1:p.His205GlnfsTer4
NM_030773.4:c.681_684del MANE Select NP_110400.1:p.His227GlnfsTer4
Search 100 bp 5'
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