Canonical Allele Identifier: CA707412320
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1323905597
gnomAD v3: 14-60644789-CAAAAAT-C
gnomAD v4: 14-60644789-CAAAAAT-C
MyVariant Identifiers: chr14:g.61111508_61111513del (hg19) chr14:g.60644790_60644795del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644792_60644797del , CM000676.2:g.60644792_60644797del GRCh38
NC_000014.8:g.61111510_61111515del , CM000676.1:g.61111510_61111515del GRCh37
NC_000014.7:g.60181263_60181268del NCBI36
NG_008231.1:g.9643_9648del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1488_*1493del MANE Select ENSP00000494686.1:n.*1488_*1493del
ENST00000247182.6:c.*1488_*1493del ENSP00000247182.5:n.*1488_*1493del
ENST00000554986.2:c.*1488_*1493del ENSP00000452700.2:n.*1488_*1493del
NM_005982.3:c.*1488_*1493del NP_005973.1:n.*1488_*1493del
XM_017021602.2:c.*1762_*1767del XP_016877091.1:n.*1762_*1767del
NM_005982.4:c.*1488_*1493del MANE Select NP_005973.1:n.*1488_*1493del
Search 100 bp 5'
Search 100 bp 3'