Canonical Allele Identifier: CA2594136357

Gene: SIX1

Linked Data

• gnomAD v3: 14-60649612-CGGGGAGGGCGAGGCTGCGGAGCTGGGGGTTGGGGGTGTTGCCGGGGCTGCGCGGGTAGGGAGT-C
• gnomAD v4: 14-60649612-CGGGGAGGGCGAGGCTGCGGAGCTGGGGGTTGGGGGTGTTGCCGGGGCTGCGCGGGTAGGGAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649615_60649677del , CM000676.2:g.60649615_60649677del	GRCh38
NC_000014.8:g.61116333_61116395del , CM000676.1:g.61116333_61116395del	GRCh37
NC_000014.7:g.60186086_60186148del	NCBI36
NG_008231.1:g.4763_4825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553535.2:n.248+2260_248+2322del
ENST00000554986.2:c.42-3098_42-3036del	ENSP00000452700.2:n.42-3098_42-3036del
ENST00000555955.3:n.1197+2260_1197+2322del