Canonical Allele Identifier: CA707412228
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1415711921
gnomAD v3: 14-60644678-AAAGCAC-A
gnomAD v4: 14-60644678-AAAGCAC-A
MyVariant Identifiers: chr14:g.61111397_61111402del (hg19) chr14:g.60644679_60644684del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644684_60644689del , CM000676.2:g.60644684_60644689del GRCh38
NC_000014.8:g.61111402_61111407del , CM000676.1:g.61111402_61111407del GRCh37
NC_000014.7:g.60181155_60181160del NCBI36
NG_008231.1:g.9754_9759del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1599_*1604del MANE Select ENSP00000494686.1:n.*1599_*1604del
ENST00000247182.6:c.*1599_*1604del ENSP00000247182.5:n.*1599_*1604del
NM_005982.4:c.*1599_*1604del MANE Select NP_005973.1:n.*1599_*1604del
Search 100 bp 5'
Search 100 bp 3'