Canonical Allele Identifier: CA9520707
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs764564434
ExAC: 19:46270256 TGGA / T
gnomAD v2: 19-46270256-TGGA-T
gnomAD v4: 19-45766998-TGGA-T
MyVariant Identifiers: chr19:g.46270257_46270259del (hg19) chr19:g.45766999_45767001del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767005_45767007del , CM000681.2:g.45767005_45767007del GRCh38
NC_000019.9:g.46270263_46270265del , CM000681.1:g.46270263_46270265del GRCh37
NC_000019.8:g.50962103_50962105del NCBI36
NG_012745.1:g.7239_7241del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.958_960del MANE Select ENSP00000316842.4:p.Ser320del
ENST00000317578.6:c.958_960del ENSP00000316842.4:p.Ser320del
ENST00000560160.1:c.587-890_587-888del
ENST00000560168.1:c.*146_*148del ENSP00000453189.2:n.*146_*148del
ENST00000622857.1:c.16-1039_16-1037del ENSP00000481365.1:n.16-1039_16-1037del
NM_175875.4:c.958_960del NP_787071.2:p.Ser320del
NM_175875.5:c.958_960del MANE Select NP_787071.3:p.Ser320del
Search 100 bp 5'
Search 100 bp 3'