Canonical Allele Identifier: CA2585856553
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766491-C-CCTGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766493_45766498dup , CM000681.2:g.45766493_45766498dup GRCh38
NC_000019.9:g.46269751_46269756dup , CM000681.1:g.46269751_46269756dup GRCh37
NC_000019.8:g.50961591_50961596dup NCBI36
NG_012745.1:g.7743_7748dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1462_1467dup MANE Select ENSP00000316842.4:p.Gln489_Ala490insProGln
ENST00000317578.6:c.1462_1467dup ENSP00000316842.4:p.Gln489_Ala490insProGln
ENST00000560160.1:c.587-386_587-381dup
ENST00000560168.1:c.*650_*655dup ENSP00000453189.2:n.*650_*655dup
ENST00000622857.1:c.16-535_16-530dup ENSP00000481365.1:n.16-535_16-530dup
NM_175875.4:c.1462_1467dup NP_787071.2:p.Gln489_Ala490insProGln
NM_175875.5:c.1462_1467dup MANE Select NP_787071.3:p.Gln489_Ala490insProGln
Search 100 bp 5'
Search 100 bp 3'