Canonical Allele Identifier: CA2140882512

Gene: SIX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649553_60649568delinsTCCGGGGCTGGCCAGC , CM000676.2:g.60649553_60649568delinsTCCGGGGCTGGCCAGC	GRCh38
NC_000014.8:g.61116271_61116286delinsTCCGGGGCTGGCCAGC , CM000676.1:g.61116271_61116286delinsTCCGGGGCTGGCCAGC	GRCh37
NC_000014.7:g.60186024_60186039delinsTCCGGGGCTGGCCAGC	NCBI36
NG_008231.1:g.4870_4885delinsGCTGGCCAGCCCCGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553535.2:n.248+2367_248+2382delinsGCTGGCCAGCCCCGGA
ENST00000554986.2:c.42-2991_42-2976delinsGCTGGCCAGCCCCGGA	ENSP00000452700.2:n.42-2991_42-2976delinsGCTGGCCAGCCCCGGA
ENST00000555955.3:n.1197+2367_1197+2382delinsGCTGGCCAGCCCCGGA