Canonical Allele Identifier: CA2497029319
Gene: SIX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60645516_60645517delinsTA , CM000676.2:g.60645516_60645517delinsTA GRCh38
NC_000014.8:g.61112234_61112235delinsTA , CM000676.1:g.61112234_61112235delinsTA GRCh37
NC_000014.7:g.60181987_60181988delinsTA NCBI36
NG_008231.1:g.8921_8922delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*766_*767delinsTA MANE Select ENSP00000494686.1:n.*766_*767delinsTA
ENST00000247182.6:c.*766_*767delinsTA ENSP00000247182.5:n.*766_*767delinsTA
ENST00000553535.2:n.1309_1310delinsTA
ENST00000554986.2:c.*766_*767delinsTA ENSP00000452700.2:n.*766_*767delinsTA
ENST00000555955.3:n.2258_2259delinsTA
NM_005982.3:c.*766_*767delinsTA NP_005973.1:n.*766_*767delinsTA
XM_017021602.2:c.*1040_*1041delinsTA XP_016877091.1:n.*1040_*1041delinsTA
NM_005982.4:c.*766_*767delinsTA MANE Select NP_005973.1:n.*766_*767delinsTA