Canonical Allele Identifier: CA2625128205
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60644789-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644794del , CM000676.2:g.60644794del GRCh38
NC_000014.8:g.61111512del , CM000676.1:g.61111512del GRCh37
NC_000014.7:g.60181265del NCBI36
NG_008231.1:g.9648del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1493del MANE Select ENSP00000494686.1:n.*1493del
ENST00000247182.6:c.*1493del ENSP00000247182.5:n.*1493del
ENST00000554986.2:c.*1493del ENSP00000452700.2:n.*1493del
NM_005982.3:c.*1493del NP_005973.1:n.*1493del
XM_017021602.2:c.*1767del XP_016877091.1:n.*1767del
NM_005982.4:c.*1493del MANE Select NP_005973.1:n.*1493del
Search 100 bp 5'
Search 100 bp 3'