Canonical Allele Identifier: CA2140896819
Gene: SIX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644708_60644711delinsGAGT , CM000676.2:g.60644708_60644711delinsGAGT GRCh38
NC_000014.8:g.61111426_61111429delinsGAGT , CM000676.1:g.61111426_61111429delinsGAGT GRCh37
NC_000014.7:g.60181179_60181182delinsGAGT NCBI36
NG_008231.1:g.9727_9730delinsACTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1572_*1575delinsACTC MANE Select ENSP00000494686.1:n.*1572_*1575delinsACTC
ENST00000247182.6:c.*1572_*1575delinsACTC ENSP00000247182.5:n.*1572_*1575delinsACTC
ENST00000554986.2:c.*1572_*1575delinsACTC ENSP00000452700.2:n.*1572_*1575delinsACTC
NM_005982.3:c.*1572_*1575delinsACTC NP_005973.1:n.*1572_*1575delinsACTC
XM_017021602.2:c.*1846_*1849delinsACTC XP_016877091.1:n.*1846_*1849delinsACTC
NM_005982.4:c.*1572_*1575delinsACTC MANE Select NP_005973.1:n.*1572_*1575delinsACTC