Canonical Allele Identifier: CA2638035903
Gene: BRCA1 HGNC NCBI
BRCA Exchange:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092965_43092969del , CM000679.2:g.43092965_43092969del GRCh38
NC_000017.10:g.41244982_41244986del , CM000679.1:g.41244982_41244986del GRCh37
NC_000017.9:g.38498508_38498512del NCBI36
NG_005905.2:g.125015_125019del , LRG_292:g.125015_125019del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2626_2630del
ENST00000461574.2:c.2562_2566del ENSP00000417241.2:p.Gln855PhefsTer?
ENST00000470026.6:c.2562_2566del ENSP00000419274.2:p.Gln855PhefsTer?
ENST00000473961.6:c.2436_2440del ENSP00000420201.2:p.Gln813PhefsTer?
ENST00000476777.6:c.2559_2563del ENSP00000417554.2:p.Gln854PhefsTer?
ENST00000477152.6:c.2484_2488del ENSP00000419988.2:p.Gln829PhefsTer?
ENST00000478531.6:c.784+1775_784+1779del ENSP00000420412.2:n.784+1775_784+1779del
ENST00000489037.2:c.2484_2488del ENSP00000420781.2:p.Gln829PhefsTer?
ENST00000493919.6:c.646+1775_646+1779del ENSP00000418819.2:n.646+1775_646+1779del
ENST00000494123.6:c.2562_2566del ENSP00000419103.2:p.Gln855PhefsTer?
ENST00000497488.2:c.1674_1678del ENSP00000418986.2:p.Gln559PhefsTer?
ENST00000618469.2:c.2562_2566del ENSP00000478114.2:p.Gln855PhefsTer?
ENST00000634433.2:c.2439_2443del ENSP00000489431.2:p.Gln814PhefsTer?
ENST00000644379.2:c.2562_2566del ENSP00000496570.2:p.Gln855PhefsTer?
ENST00000644555.2:c.646+1775_646+1779del ENSP00000494614.2:n.646+1775_646+1779del
ENST00000652672.2:c.2421_2425del ENSP00000498906.2:p.Gln808PhefsTer?
ENST00000484087.6:c.664+1775_664+1779del ENSP00000419481.2:n.664+1775_664+1779del
ENST00000700182.1:c.706+1775_706+1779del ENSP00000514849.1:n.706+1775_706+1779del
ENST00000357654.9:c.2562_2566del MANE Select ENSP00000350283.3:p.Gln855PhefsTer?
ENST00000471181.7:c.2562_2566del ENSP00000418960.2:p.Gln855PhefsTer?
ENST00000352993.7:c.671-1937_671-1933del ENSP00000312236.5:n.671-1937_671-1933del
ENST00000354071.7:c.2562_2566del ENSP00000326002.7:p.Gln855PhefsTer?
ENST00000357654.7:c.2562_2566del ENSP00000350283.3:p.Gln855PhefsTer?
ENST00000461221.5:c.*2345_*2349del ENSP00000418548.1:n.*2345_*2349del
ENST00000468300.5:c.787+1775_787+1779del ENSP00000417148.1:n.787+1775_787+1779del
ENST00000471181.6:c.2562_2566del ENSP00000418960.2:p.Gln855PhefsTer?
ENST00000478531.5:c.784+1775_784+1779del ENSP00000420412.1:n.784+1775_784+1779del
ENST00000484087.5:c.409+1775_409+1779del ENSP00000419481.1:n.409+1775_409+1779del
ENST00000487825.5:c.412+1775_412+1779del ENSP00000418212.1:n.412+1775_412+1779del
ENST00000491747.6:c.787+1775_787+1779del ENSP00000420705.2:n.787+1775_787+1779del
ENST00000493795.5:c.2421_2425del ENSP00000418775.1:p.Gln808PhefsTer?
ENST00000493919.5:c.646+1775_646+1779del ENSP00000418819.1:n.646+1775_646+1779del
ENST00000586385.5:c.5-29018_5-29014del ENSP00000465818.1:n.5-29018_5-29014del
ENST00000591534.5:c.-43-18448_-43-18444del ENSP00000467329.1:n.-43-18448_-43-18444del
ENST00000591849.5:c.-99+32302_-99+32306del ENSP00000465347.1:n.-99+32302_-99+32306del
NM_007294.3:c.2562_2566del , LRG_292t1:c.2562_2566del NP_009225.1:p.Gln855PhefsTer?
NM_007297.3:c.2421_2425del NP_009228.2:p.Gln808PhefsTer?
NM_007298.3:c.787+1775_787+1779del NP_009229.2:n.787+1775_787+1779del
NM_007299.3:c.787+1775_787+1779del NP_009230.2:n.787+1775_787+1779del
NM_007300.3:c.2562_2566del NP_009231.2:p.Gln855PhefsTer?
NR_027676.1:n.2698_2702del
NM_007294.4:c.2562_2566del MANE Select NP_009225.1:p.Gln855PhefsTer?
NM_007297.4:c.2421_2425del NP_009228.2:p.Gln808PhefsTer?
NM_007299.4:c.787+1775_787+1779del NP_009230.2:n.787+1775_787+1779del
NM_007300.4:c.2562_2566del NP_009231.2:p.Gln855PhefsTer?
NR_027676.2:n.2739_2743del