LDH info

Canonical Allele Identifier: CA16610687
Gene: BARD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 406768
ClinVar RCV Id: RCV000473816
dbSNP Id: rs1064792931

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214752490_214752524delinsCGC , CM000664.2:g.214752490_214752524delinsCGC GRCh38
NC_000002.11:g.215617214_215617248delinsCGC , CM000664.1:g.215617214_215617248delinsCGC GRCh37
NC_000002.10:g.215325459_215325493delinsCGC NCBI36
NG_012047.2:g.62181_62215delinsGCG
NG_012047.3:g.62188_62222delinsGCG

Transcript Alleles

HGVS Amino-acid change
NM_000465.3:c.1600_1634delinsGCG VV NP_000456.2:p.Thr534AlafsTer6
NM_001282543.1:c.1543_1577delinsGCG VV NP_001269472.1:p.Thr515AlafsTer6
NM_001282545.1:c.247_281delinsGCG VV NP_001269474.1:p.Thr83AlafsTer6
NM_001282548.1:c.190_224delinsGCG VV NP_001269477.1:p.Thr64AlafsTer6
NM_001282549.1:c.365-22016_365-21982delinsGCG VV NP_001269478.1:p.=
NR_104212.1:n.1593_1627delinsGCG
NR_104215.1:n.1536_1570delinsGCG
NR_104216.1:n.792_826delinsGCG
XM_011511567.1:c.1546_1580delinsGCG XP_011509869.1:p.Thr516AlafsTer6
XM_011511568.1:c.1600_1634delinsGCG XP_011509870.1:p.Thr534AlafsTer6
XM_017004613.1:c.1699_1733delinsGCG XP_016860102.1:p.Thr567AlafsTer6
XM_017004614.1:c.1699_1733delinsGCG XP_016860103.1:p.Thr567AlafsTer6
XR_002959322.1:n.1790_1824delinsGCG
NM_000465.4:c.1600_1634delinsGCG VV MANE Preferred NP_000456.2:p.Thr534AlafsTer6
NM_001282543.2:c.1543_1577delinsGCG VV NP_001269472.1:p.Thr515AlafsTer6
NM_001282545.2:c.247_281delinsGCG VV NP_001269474.1:p.Thr83AlafsTer6
NM_001282548.2:c.190_224delinsGCG VV NP_001269477.1:p.Thr64AlafsTer6
NM_001282549.2:c.365-22016_365-21982delinsGCG VV NP_001269478.1:p.=
NR_104212.2:n.1565_1599delinsGCG
NR_104215.2:n.1508_1542delinsGCG
NR_104216.2:n.764_798delinsGCG
ENST00000260947.8:c.1600_1634delinsGCG ENSP00000260947.4:p.Thr534AlafsTer6
ENST00000421162.1:c.247_281delinsGCG ENSP00000392245.1:p.Thr83AlafsTer6
ENST00000455743.5:c.*1220_*1254delinsGCG ENSP00000412186.1:p.=
ENST00000613192.1:c.74-22016_74-21982delinsGCG ENSP00000483275.1:p.=
ENST00000613374.4:c.190_224delinsGCG ENSP00000484464.1:p.Thr64AlafsTer6
ENST00000613706.4:c.247_281delinsGCG ENSP00000484976.1:p.Thr83AlafsTer6
ENST00000617164.4:c.1543_1577delinsGCG ENSP00000480470.1:p.Thr515AlafsTer6
ENST00000619009.4:c.365-22016_365-21982delinsGCG ENSP00000482293.1:p.=
ENST00000620057.4:c.*266_*300delinsGCG ENSP00000481988.1:p.=