Canonical Allele Identifier: CA16043533

Gene: DLX3

Linked Data

• ClinVar Variation Id: 373912
• ClinVar RCV Id: RCV000415464 ; RCV001198203
• dbSNP Id: rs1057518764
• MyVariant Identifiers: chr17:g.48069171dupC (hg19) ; chr17:g.48069170_48069171insC (hg19) ; chr17:g.49991807dupC (hg38) ; chr17:g.49991806_49991807insC (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434704.2:c.574dup MANE Select	ENSP00000389870.2:p.Glu192GlyfsTer10
ENST00000512495.2:c.214dup	ENSP00000449976.1:p.Glu72GlyfsTer10
NM_005220.2:c.574dup	NP_005211.1:p.Glu192GlyfsTer10
XM_011524458.1:c.516+1593dup	XP_011522760.1:n.516+1593dup
NM_005220.3:c.574dup MANE Select	NP_005211.1:p.Glu192GlyfsTer10