Canonical Allele Identifier: CA658684129
Gene: DLX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 430607
ClinVar RCV Id: RCV000585754
dbSNP Id: rs1057518764
MyVariant Identifiers: chr17:g.48069171del (hg19) chr17:g.49991807del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49991810del , CM000679.2:g.49991810del GRCh38
NC_000017.10:g.48069174del , CM000679.1:g.48069174del GRCh37
NC_000017.9:g.45424173del NCBI36
NG_023063.1:g.8418del

Transcript Alleles

HGVS Amino-acid change
ENST00000434704.2:c.574del MANE Select ENSP00000389870.2:p.Glu192ArgfsTer?
ENST00000512495.2:c.214del ENSP00000449976.1:p.Glu72ArgfsTer?
NM_005220.2:c.574del NP_005211.1:p.Glu192ArgfsTer?
XM_011524458.1:c.516+1593del XP_011522760.1:n.516+1593del
NM_005220.3:c.574del MANE Select NP_005211.1:p.Glu192ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'