Canonical Allele Identifier: CA719132990

Gene: DNASE1L2

Linked Data

• dbSNP Id: rs1430723295
• MyVariant Identifiers: chr16:g.2287629_2287647del (hg19) ; chr16:g.2237628_2237646del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2237630_2237648del , CM000678.2:g.2237630_2237648del	GRCh38
NC_000016.9:g.2287631_2287649del , CM000678.1:g.2287631_2287649del	GRCh37
NC_000016.8:g.2227632_2227650del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320700.10:c.572_590del MANE Select	ENSP00000316938.5:p.Ile191ThrfsTer26
ENST00000320700.9:c.572_590del	ENSP00000316938.5:p.Ile191ThrfsTer26
ENST00000382437.8:c.509_527del	ENSP00000371874.4:p.Ile170ThrfsTer26
ENST00000564065.5:c.572_590del	ENSP00000454562.1:p.Ile191ThrfsTer26
ENST00000567494.5:c.572_590del	ENSP00000455358.1:p.Ile191ThrfsTer26
ENST00000569184.1:c.563_581del	ENSP00000455478.1:p.Ile188ThrfsTer8
ENST00000613572.4:c.509_527del	ENSP00000482627.1:p.Ile170ThrfsTer26
NM_001301680.1:c.572_590del	NP_001288609.1:p.Ile191ThrfsTer26
NM_001374.2:c.572_590del	NP_001365.1:p.Ile191ThrfsTer26
XM_011522399.1:c.845_863del	XP_011520701.1:p.Ile282ThrfsTer26
XM_011522399.2:c.845_863del	XP_011520701.1:p.Ile282ThrfsTer26
NM_001374.3:c.572_590del MANE Select	NP_001365.1:p.Ile191ThrfsTer26
NM_001301680.2:c.572_590del	NP_001288609.1:p.Ile191ThrfsTer26