Canonical Allele Identifier: CA2658869331
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v4: 2-44942198-A-AGCGGCGGCGGGAACGGTGCGGGAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942209_44942232dup , CM000664.2:g.44942209_44942232dup GRCh38
NC_000002.11:g.45169348_45169371dup , CM000664.1:g.45169348_45169371dup GRCh37
NC_000002.10:g.45022852_45022875dup NCBI36
NG_016222.1:g.5312_5335dup

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.105_128dup MANE Select ENSP00000260653.3:p.Gly43_Ala44insAsnGlyAlaGlyGlyGlyGlyGly
ENST00000260653.4:c.105_128dup ENSP00000260653.3:p.Gly43_Ala44insAsnGlyAlaGlyGlyGlyGlyGly
NM_005413.3:c.105_128dup NP_005404.1:p.Gly43_Ala44insAsnGlyAlaGlyGlyGlyGlyGly
XM_011533042.1:c.105_128dup XP_011531344.1:p.Gly43_Ala44insAsnGlyAlaGlyGlyGlyGlyGly
NM_005413.4:c.105_128dup MANE Select NP_005404.1:p.Gly43_Ala44insAsnGlyAlaGlyGlyGlyGlyGly
Search 100 bp 5'
Search 100 bp 3'