Canonical Allele Identifier: CA74502721
Community Standard Title: NM_004393.6(DAG1):c.-117+18178del
Gene: DAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49488611del , CM000665.2:g.49488611del GRCh38
NC_000003.11:g.49526044del , CM000665.1:g.49526044del GRCh37
NC_000003.10:g.49501048del NCBI36
NG_013230.3:g.23480del
NG_013230.4:g.23480del

Transcript Alleles

HGVS Amino-acid Change
NM_004393.6:c.-117+18178del MANE Select NP_004384.5:n.-117+18178del
ENST00000308775.7:c.-117+18178del MANE Select ENSP00000312435.2:n.-117+18178del
NM_001165928.3:c.-315-87del NP_001159400.2:n.-315-87del
NM_001165928.4:c.-315-87del NP_001159400.3:n.-315-87del
NM_001177634.2:c.-117+1196del NP_001171105.1:n.-117+1196del
NM_001177634.3:c.-117+1196del NP_001171105.2:n.-117+1196del
NM_001177635.2:c.-117+11711del NP_001171106.1:n.-117+11711del
NM_001177635.3:c.-117+11711del NP_001171106.2:n.-117+11711del
NM_001177636.2:c.-236-15del NP_001171107.1:n.-236-15del
NM_001177636.3:c.-236-15del NP_001171107.2:n.-236-15del
NM_001177637.2:c.-236-15del NP_001171108.1:n.-236-15del
NM_001177637.3:c.-236-15del NP_001171108.2:n.-236-15del
NM_001177638.2:c.-267-4212del NP_001171109.1:n.-267-4212del
NM_001177638.3:c.-267-4212del NP_001171109.2:n.-267-4212del
NM_001177639.2:c.-117+18337del NP_001171110.1:n.-117+18337del
NM_001177640.2:c.-117+11706del NP_001171111.1:n.-117+11706del
NM_001177640.3:c.-117+11706del NP_001171111.2:n.-117+11706del
NM_001177641.2:c.-263-4216del NP_001171112.1:n.-263-4216del
NM_001177641.3:c.-263-4216del NP_001171112.2:n.-263-4216del
NM_001177642.2:c.-117+11711del NP_001171113.1:n.-117+11711del
NM_001177642.3:c.-117+11711del NP_001171113.2:n.-117+11711del
NM_001177643.2:c.-117+19556del NP_001171114.1:n.-117+19556del
NM_001177643.3:c.-117+19556del NP_001171114.2:n.-117+19556del
NM_001177644.2:c.-117+18038del NP_001171115.1:n.-117+18038del
NM_001177644.3:c.-117+18038del NP_001171115.2:n.-117+18038del
NM_004393.5:c.-117+18178del NP_004384.4:n.-117+18178del
ENST00000308775.6:c.-117+18178del ENSP00000312435.2:n.-117+18178del
ENST00000418588.5:c.-117+11711del ENSP00000405859.1:n.-117+11711del
ENST00000418588.6:c.-117+11711del ENSP00000405859.2:n.-117+11711del
ENST00000419218.5:c.-236-15del ENSP00000402443.1:n.-236-15del
ENST00000421560.5:c.-117+18337del ENSP00000412067.1:n.-117+18337del
ENST00000421560.6:c.-117+18337del ENSP00000412067.2:n.-117+18337del
ENST00000428779.5:c.-117+1196del ENSP00000401382.1:n.-117+1196del
ENST00000428779.6:c.-117+1196del ENSP00000401382.2:n.-117+1196del
ENST00000428779.7:c.-117+1196del ENSP00000401382.3:n.-117+1196del
ENST00000430636.1:c.-117+18038del ENSP00000401805.1:n.-117+18038del
ENST00000430636.2:c.-117+18038del ENSP00000401805.2:n.-117+18038del
ENST00000431960.5:c.-117+11711del ENSP00000388833.1:n.-117+11711del
ENST00000431960.6:c.-117+11711del ENSP00000388833.2:n.-117+11711del
ENST00000435508.6:c.-236-15del ENSP00000415321.2:n.-236-15del
ENST00000435508.7:c.-236-15del ENSP00000415321.3:n.-236-15del
ENST00000435508.8:c.-236-15del ENSP00000415321.4:n.-236-15del
ENST00000452060.5:c.-117+11706del ENSP00000410145.1:n.-117+11706del
ENST00000452060.6:c.-117+11706del ENSP00000410145.2:n.-117+11706del
ENST00000452060.7:c.-117+11706del ENSP00000410145.3:n.-117+11706del
ENST00000452317.5:c.-267-4212del ENSP00000387859.1:n.-267-4212del
ENST00000452317.6:c.-267-4212del ENSP00000387859.2:n.-267-4212del
ENST00000461492.1:n.128+18178del
ENST00000461987.2:n.373-15del
ENST00000466701.1:n.146-4216del
ENST00000466701.2:c.-263-4216del ENSP00000513216.1:n.-263-4216del
ENST00000469139.1:n.343+19556del
ENST00000469139.2:c.-117+19556del ENSP00000501165.2:n.-117+19556del
ENST00000496474.1:n.243-87del
ENST00000496474.2:c.-315-87del ENSP00000513217.1:n.-315-87del
ENST00000515359.6:c.-117+19556del ENSP00000440705.1:n.-117+19556del
ENST00000538711.5:c.-117+11706del ENSP00000438421.1:n.-117+11706del
ENST00000539901.5:c.-117+18038del ENSP00000439334.1:n.-117+18038del
ENST00000541308.5:c.-267-4212del ENSP00000440590.1:n.-267-4212del
ENST00000545947.5:c.-117+1196del ENSP00000442600.1:n.-117+1196del
ENST00000673708.1:c.-236-15del ENSP00000501140.1:n.-236-15del
ENST00000697271.1:c.-285+1170del ENSP00000513218.1:n.-285+1170del