Canonical Allele Identifier: CA2625128294
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60645450-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60645453del , CM000676.2:g.60645453del GRCh38
NC_000014.8:g.61112171del , CM000676.1:g.61112171del GRCh37
NC_000014.7:g.60181924del NCBI36
NG_008231.1:g.8987del

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.*832del MANE Select ENSP00000494686.1:n.*832del
ENST00000247182.6:c.*832del ENSP00000247182.5:n.*832del
ENST00000553535.2:n.1375del
ENST00000554986.2:c.*832del ENSP00000452700.2:n.*832del
ENST00000555955.3:n.2324del
NM_005982.3:c.*832del NP_005973.1:n.*832del
XM_017021602.2:c.*1106del XP_016877091.1:n.*1106del
NM_005982.4:c.*832del MANE Select NP_005973.1:n.*832del
Search 100 bp 5'
Search 100 bp 3'