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.43094395_43094450del , CM000679.2:g.43094395_43094450del GRCh38
NC_000017.10:g.41246412_41246467del , CM000679.1:g.41246412_41246467del GRCh37
NC_000017.9:g.38499938_38499993del NCBI36
NG_005905.2:g.123539_123594del , LRG_292:g.123539_123594del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1086_1141del , LRG_292t1:c.1086_1141del NP_009225.1:p.Asn363SerfsTer2
NM_007297.3:c.945_1000del VV NP_009228.2:p.Asn316SerfsTer2
NM_007298.3:c.787+299_787+354del VV NP_009229.2:p.=
NM_007299.3:c.787+299_787+354del VV NP_009230.2:p.=
NM_007300.3:c.1086_1141del VV NP_009231.2:p.Asn363SerfsTer2
NR_027676.1:n.1222_1277del
NM_007294.4:c.1086_1141del VV MANE Preferred NP_009225.1:p.Asn363SerfsTer2
NM_007297.4:c.945_1000del VV NP_009228.2:p.Asn316SerfsTer2
NM_007299.4:c.787+299_787+354del VV NP_009230.2:p.=
NM_007300.4:c.1086_1141del VV NP_009231.2:p.Asn363SerfsTer2
NR_027676.2:n.1263_1318del
ENST00000352993.7:c.670+1401_670+1456del ENSP00000312236.5:p.=
ENST00000354071.7:c.1086_1141del ENSP00000326002.7:p.Asn363SerfsTer2
ENST00000357654.7:c.1086_1141del ENSP00000350283.3:p.Asn363SerfsTer2
ENST00000412061.3:n.437_492del
ENST00000461221.5:c.*869_*924del ENSP00000418548.1:p.=
ENST00000468300.5:c.787+299_787+354del ENSP00000417148.1:p.=
ENST00000470026.5:c.1086_1141del ENSP00000419274.1:p.Asn363SerfsTer2
ENST00000471181.6:c.1086_1141del ENSP00000418960.2:p.Asn363SerfsTer2
ENST00000473961.5:n.683_738del
ENST00000477152.5:c.1008_1063del ENSP00000419988.1:p.Asn337SerfsTer2
ENST00000478531.5:c.784+299_784+354del ENSP00000420412.1:p.=
ENST00000484087.5:n.409+299_409+354del ENSP00000419481.1:p.=
ENST00000487825.5:n.412+299_412+354del ENSP00000418212.1:p.=
ENST00000491747.6:c.787+299_787+354del ENSP00000420705.2:p.=
ENST00000492859.5:c.*1022_*1077del ENSP00000420253.1:p.=
ENST00000493795.5:c.945_1000del ENSP00000418775.1:p.Asn316SerfsTer2
ENST00000493919.5:c.646+299_646+354del ENSP00000418819.1:p.=
ENST00000494123.5:c.1086_1141del ENSP00000419103.1:p.Asn363SerfsTer2
ENST00000497488.1:c.198_253del ENSP00000418986.1:p.Asn67SerfsTer2
ENST00000586385.5:c.5-30494_5-30439del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19924_-43-19869del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30826_-99+30881del ENSP00000465347.1:p.=
ENST00000634433.1:c.963_1018del ENSP00000489431.1:p.Asn322SerfsTer2