Canonical Allele Identifier: CA16042316
Gene: GATAD2B HGNC NCBI

Linked Data

ClinVar Variation Id: 373041
ClinVar RCV Id: RCV000412889
dbSNP Id: rs1057518163
MyVariant Identifiers: chr1:g.153785814del (hg19) chr1:g.153813338del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153813338del , CM000663.2:g.153813338del GRCh38
NC_000001.10:g.153785814del , CM000663.1:g.153785814del GRCh37
NC_000001.9:g.152052438del NCBI36
NG_050988.1:g.114638del

Transcript Alleles

HGVS Amino-acid change
ENST00000368655.5:c.1331del MANE Select ENSP00000357644.4:p.Cys444LeufsTer2
ENST00000368655.4:c.1331del ENSP00000357644.4:p.Cys444LeufsTer2
ENST00000634408.1:c.1283del ENSP00000489595.1:p.Cys428LeufsTer2
ENST00000634544.1:c.1331del ENSP00000489184.1:p.Cys444LeufsTer2
ENST00000634564.1:c.585del
NM_020699.2:c.1331del NP_065750.1:p.Cys444LeufsTer2
XM_005245364.3:c.1331del XP_005245421.1:p.Cys444LeufsTer2
XM_006711469.2:c.1331del XP_006711532.1:p.Cys444LeufsTer2
XM_011509808.1:c.1331del XP_011508110.1:p.Cys444LeufsTer2
NM_020699.3:c.1331del NP_065750.1:p.Cys444LeufsTer2
XM_005245364.4:c.1331del XP_005245421.1:p.Cys444LeufsTer2
XM_024448621.1:c.1331del XP_024304389.1:p.Cys444LeufsTer2
NM_020699.4:c.1331del MANE Select NP_065750.1:p.Cys444LeufsTer2
Search 100 bp 5'
Search 100 bp 3'