Canonical Allele Identifier: CA2260783606

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093113_43093115delinsTGC , CM000679.2:g.43093113_43093115delinsTGC	GRCh38
NC_000017.10:g.41245130_41245132delinsTGC , CM000679.1:g.41245130_41245132delinsTGC	GRCh37
NC_000017.9:g.38498656_38498658delinsTGC	NCBI36
NG_005905.2:g.124869_124871delinsGCA , LRG_292:g.124869_124871delinsGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2480_2482delinsGCA
ENST00000461574.2:c.2416_2418delinsGCA	ENSP00000417241.2:p.Ala806=
ENST00000470026.6:c.2416_2418delinsGCA	ENSP00000419274.2:p.Ala806=
ENST00000473961.6:c.2290_2292delinsGCA	ENSP00000420201.2:p.Ala764=
ENST00000476777.6:c.2413_2415delinsGCA	ENSP00000417554.2:p.Ala805=
ENST00000477152.6:c.2338_2340delinsGCA	ENSP00000419988.2:p.Ala780=
ENST00000478531.6:c.784+1629_784+1631delinsGCA	ENSP00000420412.2:n.784+1629_784+1631delinsGCA
ENST00000489037.2:c.2338_2340delinsGCA	ENSP00000420781.2:p.Ala780=
ENST00000493919.6:c.646+1629_646+1631delinsGCA	ENSP00000418819.2:n.646+1629_646+1631delinsGCA
ENST00000494123.6:c.2416_2418delinsGCA	ENSP00000419103.2:p.Ala806=
ENST00000497488.2:c.1528_1530delinsGCA	ENSP00000418986.2:p.Ala510=
ENST00000618469.2:c.2416_2418delinsGCA	ENSP00000478114.2:p.Ala806=
ENST00000634433.2:c.2293_2295delinsGCA	ENSP00000489431.2:p.Ala765=
ENST00000644379.2:c.2416_2418delinsGCA	ENSP00000496570.2:p.Ala806=
ENST00000644555.2:c.646+1629_646+1631delinsGCA	ENSP00000494614.2:n.646+1629_646+1631delinsGCA
ENST00000652672.2:c.2275_2277delinsGCA	ENSP00000498906.2:p.Ala759=
ENST00000484087.6:c.664+1629_664+1631delinsGCA	ENSP00000419481.2:n.664+1629_664+1631delinsGCA
ENST00000700182.1:c.706+1629_706+1631delinsGCA	ENSP00000514849.1:n.706+1629_706+1631delinsGCA
ENST00000357654.9:c.2416_2418delinsGCA MANE Select	ENSP00000350283.3:p.Ala806=
ENST00000471181.7:c.2416_2418delinsGCA	ENSP00000418960.2:p.Ala806=
ENST00000352993.7:c.671-2083_671-2081delinsGCA	ENSP00000312236.5:n.671-2083_671-2081delinsGCA
ENST00000354071.7:c.2416_2418delinsGCA	ENSP00000326002.7:p.Ala806=
ENST00000357654.7:c.2416_2418delinsGCA	ENSP00000350283.3:p.Ala806=
ENST00000461221.5:c.*2199_*2201delinsGCA	ENSP00000418548.1:n.*2199_*2201delinsGCA
ENST00000468300.5:c.787+1629_787+1631delinsGCA	ENSP00000417148.1:n.787+1629_787+1631delinsGCA
ENST00000471181.6:c.2416_2418delinsGCA	ENSP00000418960.2:p.Ala806=
ENST00000478531.5:c.784+1629_784+1631delinsGCA	ENSP00000420412.1:n.784+1629_784+1631delinsGCA
ENST00000484087.5:c.409+1629_409+1631delinsGCA	ENSP00000419481.1:n.409+1629_409+1631delinsGCA
ENST00000487825.5:c.412+1629_412+1631delinsGCA	ENSP00000418212.1:n.412+1629_412+1631delinsGCA
ENST00000491747.6:c.787+1629_787+1631delinsGCA	ENSP00000420705.2:n.787+1629_787+1631delinsGCA
ENST00000493795.5:c.2275_2277delinsGCA	ENSP00000418775.1:p.Ala759=
ENST00000493919.5:c.646+1629_646+1631delinsGCA	ENSP00000418819.1:n.646+1629_646+1631delinsGCA
ENST00000586385.5:c.5-29164_5-29162delinsGCA	ENSP00000465818.1:n.5-29164_5-29162delinsGCA
ENST00000591534.5:c.-43-18594_-43-18592delinsGCA	ENSP00000467329.1:n.-43-18594_-43-18592delinsGCA
ENST00000591849.5:c.-99+32156_-99+32158delinsGCA	ENSP00000465347.1:n.-99+32156_-99+32158delinsGCA
ENST00000634433.1:c.2293_2295delinsGCA	ENSP00000489431.1:p.Ala765=
NM_007294.3:c.2416_2418delinsGCA , LRG_292t1:c.2416_2418delinsGCA	NP_009225.1:p.Ala806=
NM_007297.3:c.2275_2277delinsGCA	NP_009228.2:p.Ala759=
NM_007298.3:c.787+1629_787+1631delinsGCA	NP_009229.2:n.787+1629_787+1631delinsGCA
NM_007299.3:c.787+1629_787+1631delinsGCA	NP_009230.2:n.787+1629_787+1631delinsGCA
NM_007300.3:c.2416_2418delinsGCA	NP_009231.2:p.Ala806=
NR_027676.1:n.2552_2554delinsGCA
NM_007294.4:c.2416_2418delinsGCA MANE Select	NP_009225.1:p.Ala806=
NM_007297.4:c.2275_2277delinsGCA	NP_009228.2:p.Ala759=
NM_007299.4:c.787+1629_787+1631delinsGCA	NP_009230.2:n.787+1629_787+1631delinsGCA
NM_007300.4:c.2416_2418delinsGCA	NP_009231.2:p.Ala806=
NR_027676.2:n.2593_2595delinsGCA