Canonical Allele Identifier: CA2580613691
Gene: SIX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503044
ClinVar RCV Id: RCV003229778
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648802_60648807del , CM000676.2:g.60648802_60648807del GRCh38
NC_000014.8:g.61115520_61115525del , CM000676.1:g.61115520_61115525del GRCh37
NC_000014.7:g.60185273_60185278del NCBI36
NG_008231.1:g.5634_5639del

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.386_391del MANE Select ENSP00000494686.1:p.Tyr129_Cys130del
ENST00000247182.6:c.386_391del ENSP00000247182.5:p.Tyr129_Cys130del
ENST00000553535.2:n.249-2227_249-2222del
ENST00000554986.2:c.42-2227_42-2222del ENSP00000452700.2:n.42-2227_42-2222del
ENST00000555955.3:n.1198-2227_1198-2222del
NM_005982.3:c.386_391del NP_005973.1:p.Tyr129_Cys130del
XM_017021602.2:c.386_391del XP_016877091.1:p.Tyr129_Cys130del
NM_005982.4:c.386_391del MANE Select NP_005973.1:p.Tyr129_Cys130del
Search 100 bp 5'
Search 100 bp 3'