Canonical Allele Identifier: CA2140881680

Gene: SIX1

Linked Data

• dbSNP Id: rs1895018125
• gnomAD v4: 14-60649316-GCGAAAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649319_60649325del , CM000676.2:g.60649319_60649325del	GRCh38
NC_000014.8:g.61116037_61116043del , CM000676.1:g.61116037_61116043del	GRCh37
NC_000014.7:g.60185790_60185796del	NCBI36
NG_008231.1:g.5115_5121del

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.-134_-128del MANE Select	ENSP00000494686.1:n.-134_-128del
ENST00000247182.6:c.-134_-128del	ENSP00000247182.5:n.-134_-128del
ENST00000553535.2:n.248+2612_248+2618del
ENST00000554986.2:c.42-2746_42-2740del	ENSP00000452700.2:n.42-2746_42-2740del
ENST00000555955.3:n.1197+2612_1197+2618del
NM_005982.3:c.-134_-128del	NP_005973.1:n.-134_-128del
XM_017021602.2:c.-134_-128del	XP_016877091.1:n.-134_-128del
NM_005982.4:c.-134_-128del MANE Select	NP_005973.1:n.-134_-128del