Canonical Allele Identifier: CA2140897001

Gene: SIX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60644930_60644934delinsCTTTT , CM000676.2:g.60644930_60644934delinsCTTTT	GRCh38
NC_000014.8:g.61111648_61111652delinsCTTTT , CM000676.1:g.61111648_61111652delinsCTTTT	GRCh37
NC_000014.7:g.60181401_60181405delinsCTTTT	NCBI36
NG_008231.1:g.9504_9508delinsAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.*1349_*1353delinsAAAAG MANE Select	ENSP00000494686.1:n.*1349_*1353delinsAAAAG
ENST00000247182.6:c.*1349_*1353delinsAAAAG	ENSP00000247182.5:n.*1349_*1353delinsAAAAG
ENST00000554986.2:c.*1349_*1353delinsAAAAG	ENSP00000452700.2:n.*1349_*1353delinsAAAAG
NM_005982.3:c.*1349_*1353delinsAAAAG	NP_005973.1:n.*1349_*1353delinsAAAAG
XM_017021602.2:c.*1623_*1627delinsAAAAG	XP_016877091.1:n.*1623_*1627delinsAAAAG
NM_005982.4:c.*1349_*1353delinsAAAAG MANE Select	NP_005973.1:n.*1349_*1353delinsAAAAG