Canonical Allele Identifier: CA2658869389
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs773045257
gnomAD v4: 2-44942215-T-TGCGGGAGGCGGCGGCGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942228_44942245dup , CM000664.2:g.44942228_44942245dup GRCh38
NC_000002.11:g.45169367_45169384dup , CM000664.1:g.45169367_45169384dup GRCh37
NC_000002.10:g.45022871_45022888dup NCBI36
NG_016222.1:g.5331_5348dup

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.124_141dup MANE Select ENSP00000260653.3:p.Gly47_Ser48insGlyGlyAlaGlyGlyGly
ENST00000260653.4:c.124_141dup ENSP00000260653.3:p.Gly47_Ser48insGlyGlyAlaGlyGlyGly
NM_005413.3:c.124_141dup NP_005404.1:p.Gly47_Ser48insGlyGlyAlaGlyGlyGly
XM_011533042.1:c.124_141dup XP_011531344.1:p.Gly47_Ser48insGlyGlyAlaGlyGlyGly
NM_005413.4:c.124_141dup MANE Select NP_005404.1:p.Gly47_Ser48insGlyGlyAlaGlyGlyGly
Search 100 bp 5'
Search 100 bp 3'