Canonical Allele Identifier: CA614369811

Gene: SIX1

Linked Data

• dbSNP Id: rs1209530302
• gnomAD v2: 14-61116303-TG-T
• gnomAD v3: 14-60649585-TG-T
• gnomAD v4: 14-60649585-TG-T
• MyVariant Identifiers: chr14:g.61116304del (hg19) ; chr14:g.60649586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649588del , CM000676.2:g.60649588del	GRCh38
NC_000014.8:g.61116306del , CM000676.1:g.61116306del	GRCh37
NC_000014.7:g.60186059del	NCBI36
NG_008231.1:g.4852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553535.2:n.248+2349del
ENST00000554986.2:c.42-3009del	ENSP00000452700.2:n.42-3009del
ENST00000555955.3:n.1197+2349del