Canonical Allele Identifier: CA2542517218
Gene: SIX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649728G>T , CM000676.2:g.60649728G>T GRCh38
NC_000014.8:g.61116446G>T , CM000676.1:g.61116446G>T GRCh37
NC_000014.7:g.60186199G>T NCBI36
NG_008231.1:g.4710C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2207C>A
ENST00000554986.2:c.42-3151C>A ENSP00000452700.2:n.42-3151C>A
ENST00000555955.3:n.1197+2207C>A
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