LDH info

Canonical Allele Identifier: CA000729
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 91539
dbSNP Id: rs80359875

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094390_43094445del , CM000679.2:g.43094390_43094445del GRCh38
NC_000017.10:g.41246407_41246462del , CM000679.1:g.41246407_41246462del GRCh37
NC_000017.9:g.38499933_38499988del NCBI36
NG_005905.2:g.123534_123589del , LRG_292:g.123534_123589del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1081_1136del , LRG_292t1:c.1081_1136del NP_009225.1:p.Asn363SerfsTer2
NM_007297.3:c.940_995del VV NP_009228.2:p.Asn316SerfsTer2
NM_007298.3:c.787+294_787+349del VV NP_009229.2:p.=
NM_007299.3:c.787+294_787+349del VV NP_009230.2:p.=
NM_007300.3:c.1081_1136del VV NP_009231.2:p.Asn363SerfsTer2
NR_027676.1:n.1217_1272del
NM_007294.4:c.1081_1136del VV MANE Preferred NP_009225.1:p.Asn363SerfsTer2
NM_007297.4:c.940_995del VV NP_009228.2:p.Asn316SerfsTer2
NM_007299.4:c.787+294_787+349del VV NP_009230.2:p.=
NM_007300.4:c.1081_1136del VV NP_009231.2:p.Asn363SerfsTer2
NR_027676.2:n.1258_1313del
ENST00000352993.7:c.670+1396_670+1451del ENSP00000312236.5:p.=
ENST00000354071.7:c.1081_1136del ENSP00000326002.7:p.Asn363SerfsTer2
ENST00000357654.7:c.1081_1136del ENSP00000350283.3:p.Asn363SerfsTer2
ENST00000412061.3:n.432_487del
ENST00000461221.5:c.*864_*919del ENSP00000418548.1:p.=
ENST00000468300.5:c.787+294_787+349del ENSP00000417148.1:p.=
ENST00000470026.5:c.1081_1136del ENSP00000419274.1:p.Asn363SerfsTer2
ENST00000471181.6:c.1081_1136del ENSP00000418960.2:p.Asn363SerfsTer2
ENST00000473961.5:n.678_733del
ENST00000477152.5:c.1003_1058del ENSP00000419988.1:p.Asn337SerfsTer2
ENST00000478531.5:c.784+294_784+349del ENSP00000420412.1:p.=
ENST00000484087.5:n.409+294_409+349del ENSP00000419481.1:p.=
ENST00000487825.5:n.412+294_412+349del ENSP00000418212.1:p.=
ENST00000491747.6:c.787+294_787+349del ENSP00000420705.2:p.=
ENST00000492859.5:c.*1017_*1072del ENSP00000420253.1:p.=
ENST00000493795.5:c.940_995del ENSP00000418775.1:p.Asn316SerfsTer2
ENST00000493919.5:c.646+294_646+349del ENSP00000418819.1:p.=
ENST00000494123.5:c.1081_1136del ENSP00000419103.1:p.Asn363SerfsTer2
ENST00000497488.1:c.193_248del ENSP00000418986.1:p.Asn67SerfsTer2
ENST00000586385.5:c.5-30499_5-30444del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19929_-43-19874del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30821_-99+30876del ENSP00000465347.1:p.=
ENST00000634433.1:c.958_1013del ENSP00000489431.1:p.Asn322SerfsTer2