Canonical Allele Identifier: CA2839613262
Gene: SIX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648641dup , CM000676.2:g.60648641dup GRCh38
NC_000014.8:g.61115359dup , CM000676.1:g.61115359dup GRCh37
NC_000014.7:g.60185112dup NCBI36
NG_008231.1:g.5798dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.550dup MANE Select ENSP00000494686.1:p.Ala184GlyfsTer11
ENST00000247182.6:c.550dup ENSP00000247182.5:p.Ala184GlyfsTer11
ENST00000553535.2:n.249-2063dup
ENST00000554986.2:c.42-2063dup ENSP00000452700.2:n.42-2063dup
ENST00000555955.3:n.1198-2063dup
NM_005982.3:c.550dup NP_005973.1:p.Ala184GlyfsTer11
XM_017021602.2:c.501+49dup XP_016877091.1:n.501+49dup
NM_005982.4:c.550dup MANE Select NP_005973.1:p.Ala184GlyfsTer11
Search 100 bp 5'
Search 100 bp 3'