Canonical Allele Identifier: CA2625128200
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60644765-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644767del , CM000676.2:g.60644767del GRCh38
NC_000014.8:g.61111485del , CM000676.1:g.61111485del GRCh37
NC_000014.7:g.60181238del NCBI36
NG_008231.1:g.9672del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1517del MANE Select ENSP00000494686.1:n.*1517del
ENST00000247182.6:c.*1517del ENSP00000247182.5:n.*1517del
ENST00000554986.2:c.*1517del ENSP00000452700.2:n.*1517del
NM_005982.3:c.*1517del NP_005973.1:n.*1517del
XM_017021602.2:c.*1791del XP_016877091.1:n.*1791del
NM_005982.4:c.*1517del MANE Select NP_005973.1:n.*1517del
Search 100 bp 5'
Search 100 bp 3'