Canonical Allele Identifier: CA2625129131
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60649445-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649448del , CM000676.2:g.60649448del GRCh38
NC_000014.8:g.61116166del , CM000676.1:g.61116166del GRCh37
NC_000014.7:g.60185919del NCBI36
NG_008231.1:g.4992del

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.-257del MANE Select ENSP00000494686.1:n.-257del
ENST00000247182.6:c.-257del ENSP00000247182.5:n.-257del
ENST00000553535.2:n.248+2489del
ENST00000554986.2:c.42-2869del ENSP00000452700.2:n.42-2869del
ENST00000555955.3:n.1197+2489del
XM_017021602.2:c.-257del XP_016877091.1:n.-257del
NM_005982.4:c.-257del MANE Select NP_005973.1:n.-257del
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