Canonical Allele Identifier: CA2842234789

Gene: SIX1 MIR9718

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60648708dup , CM000676.2:g.60648708dup	GRCh38
NC_000014.8:g.61115426dup , CM000676.1:g.61115426dup	GRCh37
NC_000014.7:g.60185179dup	NCBI36
NG_008231.1:g.5731dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.483dup (SIX1) MANE Select	ENSP00000494686.1:p.Gly162ArgfsTer12
ENST00000247182.6:c.483dup (SIX1)	ENSP00000247182.5:p.Gly162ArgfsTer12
ENST00000553535.2:n.249-2130dup (SIX1)
ENST00000554986.2:c.42-2130dup (SIX1)	ENSP00000452700.2:n.42-2130dup
ENST00000555955.3:n.1198-2130dup (SIX1)
NM_005982.3:c.483dup (SIX1)	NP_005973.1:p.Gly162ArgfsTer12
XM_017021602.2:c.483dup (SIX1)	XP_016877091.1:p.Gly162ArgfsTer?
NM_005982.4:c.483dup (SIX1) MANE Select	NP_005973.1:p.Gly162ArgfsTer12
NR_162089.1:n.61dup (MIR9718)