Canonical Allele Identifier: CA2202125405

Gene: DNASE1L2

Linked Data

• dbSNP Id: rs2093515855

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2237542_2237571del , CM000678.2:g.2237542_2237571del	GRCh38
NC_000016.9:g.2287543_2287572del , CM000678.1:g.2287543_2287572del	GRCh37
NC_000016.8:g.2227544_2227573del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320700.10:c.484_513del MANE Select	ENSP00000316938.5:p.Gln162_Ala171del
ENST00000320700.9:c.484_513del	ENSP00000316938.5:p.Gln162_Ala171del
ENST00000382437.8:c.421_450del	ENSP00000371874.4:p.Gln141_Ala150del
ENST00000564065.5:c.484_513del	ENSP00000454562.1:p.Gln162_Ala171del
ENST00000567494.5:c.484_513del	ENSP00000455358.1:p.Gln162_Ala171del
ENST00000569184.1:c.475_504del	ENSP00000455478.1:p.Gln159_Ala168del
ENST00000613572.4:c.421_450del	ENSP00000482627.1:p.Gln141_Ala150del
NM_001301680.1:c.484_513del	NP_001288609.1:p.Gln162_Ala171del
NM_001374.2:c.484_513del	NP_001365.1:p.Gln162_Ala171del
XM_011522399.1:c.757_786del	XP_011520701.1:p.Gln253_Ala262del
XM_011522399.2:c.757_786del	XP_011520701.1:p.Gln253_Ala262del
NM_001374.3:c.484_513del MANE Select	NP_001365.1:p.Gln162_Ala171del
NM_001301680.2:c.484_513del	NP_001288609.1:p.Gln162_Ala171del