Canonical Allele Identifier: CA2140897002

Gene: SIX1

Linked Data

• dbSNP Id: rs1894913997

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60644933_60644936del , CM000676.2:g.60644933_60644936del	GRCh38
NC_000014.8:g.61111651_61111654del , CM000676.1:g.61111651_61111654del	GRCh37
NC_000014.7:g.60181404_60181407del	NCBI36
NG_008231.1:g.9504_9507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.*1349_*1352del MANE Select	ENSP00000494686.1:n.*1349_*1352del
ENST00000247182.6:c.*1349_*1352del	ENSP00000247182.5:n.*1349_*1352del
ENST00000554986.2:c.*1349_*1352del	ENSP00000452700.2:n.*1349_*1352del
ENST00000555955.3:n.2841_2844del
NM_005982.3:c.*1349_*1352del	NP_005973.1:n.*1349_*1352del
XM_017021602.2:c.*1623_*1626del	XP_016877091.1:n.*1623_*1626del
NM_005982.4:c.*1349_*1352del MANE Select	NP_005973.1:n.*1349_*1352del