Canonical Allele Identifier: CA2140881678
Gene: SIX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649316_60649323delinsGCGAAAAC , CM000676.2:g.60649316_60649323delinsGCGAAAAC GRCh38
NC_000014.8:g.61116034_61116041delinsGCGAAAAC , CM000676.1:g.61116034_61116041delinsGCGAAAAC GRCh37
NC_000014.7:g.60185787_60185794delinsGCGAAAAC NCBI36
NG_008231.1:g.5115_5122delinsGTTTTCGC

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.-134_-127delinsGTTTTCGC MANE Select ENSP00000494686.1:n.-134_-127delinsGTTTTCGC
ENST00000247182.6:c.-134_-127delinsGTTTTCGC ENSP00000247182.5:n.-134_-127delinsGTTTTCGC
ENST00000553535.2:n.248+2612_248+2619delinsGTTTTCGC
ENST00000554986.2:c.42-2746_42-2739delinsGTTTTCGC ENSP00000452700.2:n.42-2746_42-2739delinsGTTTTCGC
ENST00000555955.3:n.1197+2612_1197+2619delinsGTTTTCGC
NM_005982.3:c.-134_-127delinsGTTTTCGC NP_005973.1:n.-134_-127delinsGTTTTCGC
XM_017021602.2:c.-134_-127delinsGTTTTCGC XP_016877091.1:n.-134_-127delinsGTTTTCGC
NM_005982.4:c.-134_-127delinsGTTTTCGC MANE Select NP_005973.1:n.-134_-127delinsGTTTTCGC