Canonical Allele Identifier: CA2494534957
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs768858586
gnomAD v4: 2-44942211-ACGGTGCGGGAGGCGGCGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942215_44942232del , CM000664.2:g.44942215_44942232del GRCh38
NC_000002.11:g.45169354_45169371del , CM000664.1:g.45169354_45169371del GRCh37
NC_000002.10:g.45022858_45022875del NCBI36
NG_016222.1:g.5318_5335del

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.111_128del MANE Select ENSP00000260653.3:p.Ala38_Gly43del
ENST00000260653.4:c.111_128del ENSP00000260653.3:p.Ala38_Gly43del
NM_005413.3:c.111_128del NP_005404.1:p.Ala38_Gly43del
XM_011533042.1:c.111_128del XP_011531344.1:p.Ala38_Gly43del
NM_005413.4:c.111_128del MANE Select NP_005404.1:p.Ala38_Gly43del
Search 100 bp 5'
Search 100 bp 3'