Canonical Allele Identifier: CA707374633

Gene: SIX1

Linked Data

• dbSNP Id: rs1431383263
• gnomAD v4: 14-60649553-TCCGGGGCTGGCCAGC-T
• MyVariant Identifiers: chr14:g.61116272_61116286del (hg19) ; chr14:g.60649554_60649568del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649555_60649569del , CM000676.2:g.60649555_60649569del	GRCh38
NC_000014.8:g.61116273_61116287del , CM000676.1:g.61116273_61116287del	GRCh37
NC_000014.7:g.60186026_60186040del	NCBI36
NG_008231.1:g.4870_4884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553535.2:n.248+2367_248+2381del
ENST00000554986.2:c.42-2991_42-2977del	ENSP00000452700.2:n.42-2991_42-2977del
ENST00000555955.3:n.1197+2367_1197+2381del