Canonical Allele Identifier: CA963740492
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1894910608
gnomAD v3: 14-60644708-GAGT-G
gnomAD v4: 14-60644708-GAGT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644711_60644713del , CM000676.2:g.60644711_60644713del GRCh38
NC_000014.8:g.61111429_61111431del , CM000676.1:g.61111429_61111431del GRCh37
NC_000014.7:g.60181182_60181184del NCBI36
NG_008231.1:g.9727_9729del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1572_*1574del MANE Select ENSP00000494686.1:n.*1572_*1574del
ENST00000247182.6:c.*1572_*1574del ENSP00000247182.5:n.*1572_*1574del
ENST00000554986.2:c.*1572_*1574del ENSP00000452700.2:n.*1572_*1574del
NM_005982.3:c.*1572_*1574del NP_005973.1:n.*1572_*1574del
XM_017021602.2:c.*1846_*1848del XP_016877091.1:n.*1846_*1848del
NM_005982.4:c.*1572_*1574del MANE Select NP_005973.1:n.*1572_*1574del
Search 100 bp 5'
Search 100 bp 3'