Canonical Allele Identifier: CA2638035759
Gene: BRCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092904_43092912del , CM000679.2:g.43092904_43092912del GRCh38
NC_000017.10:g.41244921_41244929del , CM000679.1:g.41244921_41244929del GRCh37
NC_000017.9:g.38498447_38498455del NCBI36
NG_005905.2:g.125076_125084del , LRG_292:g.125076_125084del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.2687_2695del
ENST00000461574.2:c.2623_2631del ENSP00000417241.2:p.Pro875_Asn877del
ENST00000470026.6:c.2623_2631del ENSP00000419274.2:p.Pro875_Asn877del
ENST00000473961.6:c.2497_2505del ENSP00000420201.2:p.Pro833_Asn835del
ENST00000476777.6:c.2620_2628del ENSP00000417554.2:p.Pro874_Asn876del
ENST00000477152.6:c.2545_2553del ENSP00000419988.2:p.Pro849_Asn851del
ENST00000478531.6:c.784+1836_784+1844del ENSP00000420412.2:n.784+1836_784+1844del
ENST00000489037.2:c.2545_2553del ENSP00000420781.2:p.Pro849_Asn851del
ENST00000493919.6:c.646+1836_646+1844del ENSP00000418819.2:n.646+1836_646+1844del
ENST00000494123.6:c.2623_2631del ENSP00000419103.2:p.Pro875_Asn877del
ENST00000497488.2:c.1735_1743del ENSP00000418986.2:p.Pro579_Asn581del
ENST00000618469.2:c.2623_2631del ENSP00000478114.2:p.Pro875_Asn877del
ENST00000634433.2:c.2500_2508del ENSP00000489431.2:p.Pro834_Asn836del
ENST00000644379.2:c.2623_2631del ENSP00000496570.2:p.Pro875_Asn877del
ENST00000644555.2:c.646+1836_646+1844del ENSP00000494614.2:n.646+1836_646+1844del
ENST00000652672.2:c.2482_2490del ENSP00000498906.2:p.Pro828_Asn830del
ENST00000484087.6:c.664+1836_664+1844del ENSP00000419481.2:n.664+1836_664+1844del
ENST00000700182.1:c.706+1836_706+1844del ENSP00000514849.1:n.706+1836_706+1844del
ENST00000357654.9:c.2623_2631del MANE Select ENSP00000350283.3:p.Pro875_Asn877del
ENST00000471181.7:c.2623_2631del ENSP00000418960.2:p.Pro875_Asn877del
ENST00000352993.7:c.671-1876_671-1868del ENSP00000312236.5:n.671-1876_671-1868del
ENST00000354071.7:c.2623_2631del ENSP00000326002.7:p.Pro875_Asn877del
ENST00000357654.7:c.2623_2631del ENSP00000350283.3:p.Pro875_Asn877del
ENST00000461221.5:c.*2406_*2414del ENSP00000418548.1:n.*2406_*2414del
ENST00000468300.5:c.787+1836_787+1844del ENSP00000417148.1:n.787+1836_787+1844del
ENST00000471181.6:c.2623_2631del ENSP00000418960.2:p.Pro875_Asn877del
ENST00000478531.5:c.784+1836_784+1844del ENSP00000420412.1:n.784+1836_784+1844del
ENST00000484087.5:c.409+1836_409+1844del ENSP00000419481.1:n.409+1836_409+1844del
ENST00000487825.5:c.412+1836_412+1844del ENSP00000418212.1:n.412+1836_412+1844del
ENST00000491747.6:c.787+1836_787+1844del ENSP00000420705.2:n.787+1836_787+1844del
ENST00000493795.5:c.2482_2490del ENSP00000418775.1:p.Pro828_Asn830del
ENST00000493919.5:c.646+1836_646+1844del ENSP00000418819.1:n.646+1836_646+1844del
ENST00000586385.5:c.5-28957_5-28949del ENSP00000465818.1:n.5-28957_5-28949del
ENST00000591534.5:c.-43-18387_-43-18379del ENSP00000467329.1:n.-43-18387_-43-18379del
ENST00000591849.5:c.-99+32363_-99+32371del ENSP00000465347.1:n.-99+32363_-99+32371del
NM_007294.3:c.2623_2631del , LRG_292t1:c.2623_2631del NP_009225.1:p.Pro875_Asn877del
NM_007297.3:c.2482_2490del NP_009228.2:p.Pro828_Asn830del
NM_007298.3:c.787+1836_787+1844del NP_009229.2:n.787+1836_787+1844del
NM_007299.3:c.787+1836_787+1844del NP_009230.2:n.787+1836_787+1844del
NM_007300.3:c.2623_2631del NP_009231.2:p.Pro875_Asn877del
NR_027676.1:n.2759_2767del
NM_007294.4:c.2623_2631del MANE Select NP_009225.1:p.Pro875_Asn877del
NM_007297.4:c.2482_2490del NP_009228.2:p.Pro828_Asn830del
NM_007299.4:c.787+1836_787+1844del NP_009230.2:n.787+1836_787+1844del
NM_007300.4:c.2623_2631del NP_009231.2:p.Pro875_Asn877del
NR_027676.2:n.2800_2808del