Canonical Allele Identifier: CA532706760
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs1244590088
gnomAD v2: 2-45169335-G-GT
gnomAD v4: 2-44942196-G-GT
MyVariant Identifiers: chr2:g.45169335_45169336insT (hg19) chr2:g.44942196_44942197insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942197dup , CM000664.2:g.44942197dup GRCh38
NC_000002.11:g.45169336dup , CM000664.1:g.45169336dup GRCh37
NC_000002.10:g.45022840dup NCBI36
NG_016222.1:g.5300dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.93dup MANE Select ENSP00000260653.3:p.Ser32Ter
ENST00000260653.4:c.93dup ENSP00000260653.3:p.Ser32Ter
NM_005413.3:c.93dup NP_005404.1:p.Ser32Ter
XM_011533042.1:c.93dup XP_011531344.1:p.Ser32Ter
NM_005413.4:c.93dup MANE Select NP_005404.1:p.Ser32Ter
Search 100 bp 5'
Search 100 bp 3'