Canonical Allele Identifier: CA2140881738

Gene: SIX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649337_60649340delinsTGGC , CM000676.2:g.60649337_60649340delinsTGGC	GRCh38
NC_000014.8:g.61116055_61116058delinsTGGC , CM000676.1:g.61116055_61116058delinsTGGC	GRCh37
NC_000014.7:g.60185808_60185811delinsTGGC	NCBI36
NG_008231.1:g.5098_5101delinsGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.-151_-148delinsGCCA MANE Select	ENSP00000494686.1:n.-151_-148delinsGCCA
ENST00000247182.6:c.-151_-148delinsGCCA	ENSP00000247182.5:n.-151_-148delinsGCCA
ENST00000553535.2:n.248+2595_248+2598delinsGCCA
ENST00000554986.2:c.42-2763_42-2760delinsGCCA	ENSP00000452700.2:n.42-2763_42-2760delinsGCCA
ENST00000555955.3:n.1197+2595_1197+2598delinsGCCA
NM_005982.3:c.-151_-148delinsGCCA	NP_005973.1:n.-151_-148delinsGCCA
XM_017021602.2:c.-151_-148delinsGCCA	XP_016877091.1:n.-151_-148delinsGCCA
NM_005982.4:c.-151_-148delinsGCCA MANE Select	NP_005973.1:n.-151_-148delinsGCCA