Canonical Allele Identifier: CA2653535268
Gene: TUBB1 HGNC NCBI

Linked Data

gnomAD v4: 20-59024103-AACC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.59024107_59024109del , CM000682.2:g.59024107_59024109del GRCh38
NC_000020.10:g.57599162_57599164del , CM000682.1:g.57599162_57599164del GRCh37
NC_000020.9:g.57032557_57032559del NCBI36
NG_023424.2:g.9854_9856del , LRG_581:g.9854_9856del

Transcript Alleles

HGVS Amino-acid change
ENST00000217133.2:c.680_682del MANE Select ENSP00000217133.1:p.His227del
ENST00000217133.1:c.680_682del ENSP00000217133.1:p.His227del
NM_030773.3:c.680_682del , LRG_581t1:c.680_682del NP_110400.1:p.His227del
XM_017028085.1:c.614_616del XP_016883574.1:p.His205del
NM_030773.4:c.680_682del MANE Select NP_110400.1:p.His227del
Search 100 bp 5'
Search 100 bp 3'