LDH info

Canonical Allele Identifier: CA271371
Gene: CREBBP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 158345
ClinVar RCV Id: RCV000145723
dbSNP Id: rs587783470

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3777648_3777649del , CM000678.2:g.3777648_3777649del GRCh38
NC_000016.9:g.3827649_3827650del , CM000678.1:g.3827649_3827650del GRCh37
NC_000016.8:g.3767650_3767651del NCBI36
NG_009873.1:g.107472_107473del
NG_009873.2:g.108065_108066del

Transcript Alleles

HGVS Amino-acid change
NM_001079846.1:c.2008_2009del VV NP_001073315.1:p.Leu670ValfsTer17
NM_004380.2:c.2122_2123del VV NP_004371.2:p.Leu708ValfsTer17
XM_005255124.3:c.2113+362_2113+363del XP_005255181.1:p.=
XM_005255125.3:c.2122_2123del XP_005255182.1:p.Leu708ValfsTer17
XM_006720848.2:c.2122_2123del XP_006720911.1:p.Leu708ValfsTer17
XM_011522380.1:c.2068_2069del XP_011520682.1:p.Leu690ValfsTer17
XM_011522381.1:c.1369_1370del XP_011520683.1:p.Leu457ValfsTer17
XM_011522382.1:c.2122_2123del XP_011520684.1:p.Leu708ValfsTer17
XM_005255124.4:c.2113+362_2113+363del XP_005255181.1:p.=
XM_005255125.4:c.2122_2123del XP_005255182.1:p.Leu708ValfsTer17
XM_006720848.3:c.2122_2123del XP_006720911.1:p.Leu708ValfsTer17
XM_011522381.2:c.1369_1370del XP_011520683.1:p.Leu457ValfsTer17
XM_011522382.3:c.2122_2123del XP_011520684.1:p.Leu708ValfsTer17
XM_017022944.1:c.2122_2123del XP_016878433.1:p.Leu708ValfsTer17
NM_004380.3:c.2122_2123del VV MANE Preferred NP_004371.2:p.Leu708ValfsTer17
ENST00000262367.9:c.2122_2123del ENSP00000262367.5:p.Leu708ValfsTer17
ENST00000382070.7:c.2008_2009del ENSP00000371502.3:p.Leu670ValfsTer17
ENST00000570939.2:n.727_728del ENSP00000461002.2:p.Leu243ValfsTer17
ENST00000571826.5:n.171_172del
ENST00000572134.1:n.426+362_426+363del