Canonical Allele Identifier: CA793764471
Gene: HTT HGNC NCBI

Linked Data

dbSNP Id: rs1392901276
gnomAD v3: 4-3060616-CAA-C
gnomAD v4: 4-3060616-CAA-C
MyVariant Identifiers: chr4:g.3062344_3062345del (hg19) chr4:g.3060617_3060618del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3060618_3060619del , CM000666.2:g.3060618_3060619del GRCh38
NC_000004.11:g.3062345_3062346del , CM000666.1:g.3062345_3062346del GRCh37
NC_000004.10:g.3032143_3032144del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647962.1:n.825-1858_825-1857del
ENST00000649900.1:n.503+18373_503+18374del
ENST00000680239.1:c.5+18373_5+18374del ENSP00000506169.1:n.5+18373_5+18374del
ENST00000680360.1:c.5+18373_5+18374del ENSP00000505014.1:n.5+18373_5+18374del
ENST00000680956.1:c.5+18373_5+18374del ENSP00000506029.1:n.5+18373_5+18374del
ENST00000681528.1:c.5+18373_5+18374del ENSP00000506116.1:n.5+18373_5+18374del
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