Canonical Allele Identifier: CA2585856551
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766484-CCCACAGCCTGGGGCAGGGTCA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766489_45766509del , CM000681.2:g.45766489_45766509del GRCh38
NC_000019.9:g.46269747_46269767del , CM000681.1:g.46269747_46269767del GRCh37
NC_000019.8:g.50961587_50961607del NCBI36
NG_012745.1:g.7735_7755del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1454_1474del MANE Select ENSP00000316842.4:p.Val485_Val491del
ENST00000317578.6:c.1454_1474del ENSP00000316842.4:p.Val485_Val491del
ENST00000560160.1:c.587-394_587-374del
ENST00000560168.1:c.*642_*662del ENSP00000453189.2:n.*642_*662del
ENST00000622857.1:c.16-543_16-523del ENSP00000481365.1:n.16-543_16-523del
NM_175875.4:c.1454_1474del NP_787071.2:p.Val485_Val491del
NM_175875.5:c.1454_1474del MANE Select NP_787071.3:p.Val485_Val491del
Search 100 bp 5'
Search 100 bp 3'