Canonical Allele Identifier: CA707374352

Gene: SIX1

Linked Data

• dbSNP Id: rs1243831581
• MyVariant Identifiers: chr14:g.61115977_61115996del (hg19) ; chr14:g.60649259_60649278del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649264_60649283del , CM000676.2:g.60649264_60649283del	GRCh38
NC_000014.8:g.61115982_61116001del , CM000676.1:g.61115982_61116001del	GRCh37
NC_000014.7:g.60185735_60185754del	NCBI36
NG_008231.1:g.5160_5179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.-89_-70del MANE Select	ENSP00000494686.1:n.-89_-70del
ENST00000247182.6:c.-89_-70del	ENSP00000247182.5:n.-89_-70del
ENST00000553535.2:n.248+2657_248+2676del
ENST00000554986.2:c.42-2701_42-2682del	ENSP00000452700.2:n.42-2701_42-2682del
ENST00000555955.3:n.1197+2657_1197+2676del
NM_005982.3:c.-89_-70del	NP_005973.1:n.-89_-70del
XM_017021602.2:c.-89_-70del	XP_016877091.1:n.-89_-70del
NM_005982.4:c.-89_-70del MANE Select	NP_005973.1:n.-89_-70del