Canonical Allele Identifier: CA16617991
Gene: DAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418678
ClinVar RCV Id: RCV000487266
dbSNP Id: rs1064793360

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49532282_49532307del , CM000665.2:g.49532282_49532307del GRCh38
NC_000003.11:g.49569715_49569740del , CM000665.1:g.49569715_49569740del GRCh37
NC_000003.10:g.49544719_49544744del NCBI36
NG_013230.3:g.67151_67176del
NG_013230.4:g.67151_67176del

Transcript Alleles

HGVS Amino-acid change
ENST00000418588.6:c.1771_1796del ENSP00000405859.2:p.Phe591ProfsTer4
ENST00000421560.6:c.1771_1796del ENSP00000412067.2:p.Phe591ProfsTer4
ENST00000428779.7:c.1771_1796del ENSP00000401382.3:p.Phe591ProfsTer4
ENST00000430636.2:c.1771_1796del ENSP00000401805.2:p.Phe591ProfsTer4
ENST00000431960.6:c.1771_1796del ENSP00000388833.2:p.Phe591ProfsTer4
ENST00000435508.8:c.1771_1796del ENSP00000415321.4:p.Phe591ProfsTer4
ENST00000452060.7:c.1771_1796del ENSP00000410145.3:p.Phe591ProfsTer4
ENST00000452317.6:c.1771_1796del ENSP00000387859.2:p.Phe591ProfsTer4
ENST00000466701.2:c.1771_1796del ENSP00000513216.1:p.Phe591ProfsTer4
ENST00000469139.2:c.1771_1796del ENSP00000501165.2:p.Phe591ProfsTer4
ENST00000496474.2:c.1771_1796del ENSP00000513217.1:p.Phe591ProfsTer4
ENST00000697271.1:c.1771_1796del ENSP00000513218.1:p.Phe591ProfsTer4
ENST00000308775.7:c.1771_1796del MANE Select ENSP00000312435.2:p.Phe591ProfsTer4
ENST00000673708.1:c.1771_1796del ENSP00000501140.1:p.Phe591ProfsTer4
ENST00000308775.6:c.1771_1796del ENSP00000312435.2:p.Phe591ProfsTer4
ENST00000515359.6:c.1771_1796del ENSP00000440705.1:p.Phe591ProfsTer4
ENST00000538711.5:c.1771_1796del ENSP00000438421.1:p.Phe591ProfsTer4
ENST00000539901.5:c.1771_1796del ENSP00000439334.1:p.Phe591ProfsTer4
ENST00000541308.5:c.1771_1796del ENSP00000440590.1:p.Phe591ProfsTer4
ENST00000545947.5:c.1771_1796del ENSP00000442600.1:p.Phe591ProfsTer4
NM_001165928.3:c.1771_1796del NP_001159400.2:p.Phe591ProfsTer4
NM_001177634.2:c.1771_1796del NP_001171105.1:p.Phe591ProfsTer4
NM_001177635.2:c.1771_1796del NP_001171106.1:p.Phe591ProfsTer4
NM_001177636.2:c.1771_1796del NP_001171107.1:p.Phe591ProfsTer4
NM_001177637.2:c.1771_1796del NP_001171108.1:p.Phe591ProfsTer4
NM_001177638.2:c.1771_1796del NP_001171109.1:p.Phe591ProfsTer4
NM_001177639.2:c.1771_1796del NP_001171110.1:p.Phe591ProfsTer4
NM_001177640.2:c.1771_1796del NP_001171111.1:p.Phe591ProfsTer4
NM_001177641.2:c.1771_1796del NP_001171112.1:p.Phe591ProfsTer4
NM_001177642.2:c.1771_1796del NP_001171113.1:p.Phe591ProfsTer4
NM_001177643.2:c.1771_1796del NP_001171114.1:p.Phe591ProfsTer4
NM_001177644.2:c.1771_1796del NP_001171115.1:p.Phe591ProfsTer4
NM_004393.5:c.1771_1796del NP_004384.4:p.Phe591ProfsTer4
NM_004393.6:c.1771_1796del MANE Select NP_004384.5:p.Phe591ProfsTer4
NM_001165928.4:c.1771_1796del NP_001159400.3:p.Phe591ProfsTer4
NM_001177634.3:c.1771_1796del NP_001171105.2:p.Phe591ProfsTer4
NM_001177635.3:c.1771_1796del NP_001171106.2:p.Phe591ProfsTer4
NM_001177636.3:c.1771_1796del NP_001171107.2:p.Phe591ProfsTer4
NM_001177637.3:c.1771_1796del NP_001171108.2:p.Phe591ProfsTer4
NM_001177638.3:c.1771_1796del NP_001171109.2:p.Phe591ProfsTer4
NM_001177639.3:c.1771_1796del NP_001171110.2:p.Phe591ProfsTer4
NM_001177640.3:c.1771_1796del NP_001171111.2:p.Phe591ProfsTer4
NM_001177641.3:c.1771_1796del NP_001171112.2:p.Phe591ProfsTer4
NM_001177642.3:c.1771_1796del NP_001171113.2:p.Phe591ProfsTer4
NM_001177643.3:c.1771_1796del NP_001171114.2:p.Phe591ProfsTer4
NM_001177644.3:c.1771_1796del NP_001171115.2:p.Phe591ProfsTer4