Canonical Allele Identifier: CA2140882902
Gene: SIX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649694_60649695delinsAG , CM000676.2:g.60649694_60649695delinsAG GRCh38
NC_000014.8:g.61116412_61116413delinsAG , CM000676.1:g.61116412_61116413delinsAG GRCh37
NC_000014.7:g.60186165_60186166delinsAG NCBI36
NG_008231.1:g.4743_4744delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2240_248+2241delinsCT
ENST00000554986.2:c.42-3118_42-3117delinsCT ENSP00000452700.2:n.42-3118_42-3117delinsCT
ENST00000555955.3:n.1197+2240_1197+2241delinsCT