Canonical Allele Identifier: CA2695225986

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092918_43092919delinsAAA , CM000679.2:g.43092918_43092919delinsAAA	GRCh38
NC_000017.10:g.41244935_41244936delinsAAA , CM000679.1:g.41244935_41244936delinsAAA	GRCh37
NC_000017.9:g.38498461_38498462delinsAAA	NCBI36
NG_005905.2:g.125065_125066delinsTTT , LRG_292:g.125065_125066delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2676_2677delinsTTT
ENST00000461574.2:c.2612_2613delinsTTT	ENSP00000417241.2:p.Pro871LeufsTer?
ENST00000470026.6:c.2612_2613delinsTTT	ENSP00000419274.2:p.Pro871LeufsTer?
ENST00000473961.6:c.2486_2487delinsTTT	ENSP00000420201.2:p.Pro829LeufsTer?
ENST00000476777.6:c.2609_2610delinsTTT	ENSP00000417554.2:p.Pro870LeufsTer?
ENST00000477152.6:c.2534_2535delinsTTT	ENSP00000419988.2:p.Pro845LeufsTer?
ENST00000478531.6:c.784+1825_784+1826delinsTTT	ENSP00000420412.2:n.784+1825_784+1826delinsTTT
ENST00000489037.2:c.2534_2535delinsTTT	ENSP00000420781.2:p.Pro845LeufsTer?
ENST00000493919.6:c.646+1825_646+1826delinsTTT	ENSP00000418819.2:n.646+1825_646+1826delinsTTT
ENST00000494123.6:c.2612_2613delinsTTT	ENSP00000419103.2:p.Pro871LeufsTer?
ENST00000497488.2:c.1724_1725delinsTTT	ENSP00000418986.2:p.Pro575LeufsTer?
ENST00000618469.2:c.2612_2613delinsTTT	ENSP00000478114.2:p.Pro871LeufsTer?
ENST00000634433.2:c.2489_2490delinsTTT	ENSP00000489431.2:p.Pro830LeufsTer?
ENST00000644379.2:c.2612_2613delinsTTT	ENSP00000496570.2:p.Pro871LeufsTer?
ENST00000644555.2:c.646+1825_646+1826delinsTTT	ENSP00000494614.2:n.646+1825_646+1826delinsTTT
ENST00000652672.2:c.2471_2472delinsTTT	ENSP00000498906.2:p.Pro824LeufsTer?
ENST00000484087.6:c.664+1825_664+1826delinsTTT	ENSP00000419481.2:n.664+1825_664+1826delinsTTT
ENST00000700182.1:c.706+1825_706+1826delinsTTT	ENSP00000514849.1:n.706+1825_706+1826delinsTTT
ENST00000357654.9:c.2612_2613delinsTTT MANE Select	ENSP00000350283.3:p.Pro871LeufsTer?
ENST00000471181.7:c.2612_2613delinsTTT	ENSP00000418960.2:p.Pro871LeufsTer?
ENST00000352993.7:c.671-1887_671-1886delinsTTT	ENSP00000312236.5:n.671-1887_671-1886delinsTTT
ENST00000354071.7:c.2612_2613delinsTTT	ENSP00000326002.7:p.Pro871LeufsTer?
ENST00000357654.7:c.2612_2613delinsTTT	ENSP00000350283.3:p.Pro871LeufsTer?
ENST00000461221.5:c.*2395_*2396delinsTTT	ENSP00000418548.1:n.*2395_*2396delinsTTT
ENST00000468300.5:c.787+1825_787+1826delinsTTT	ENSP00000417148.1:n.787+1825_787+1826delinsTTT
ENST00000471181.6:c.2612_2613delinsTTT	ENSP00000418960.2:p.Pro871LeufsTer?
ENST00000478531.5:c.784+1825_784+1826delinsTTT	ENSP00000420412.1:n.784+1825_784+1826delinsTTT
ENST00000484087.5:c.409+1825_409+1826delinsTTT	ENSP00000419481.1:n.409+1825_409+1826delinsTTT
ENST00000487825.5:c.412+1825_412+1826delinsTTT	ENSP00000418212.1:n.412+1825_412+1826delinsTTT
ENST00000491747.6:c.787+1825_787+1826delinsTTT	ENSP00000420705.2:n.787+1825_787+1826delinsTTT
ENST00000493795.5:c.2471_2472delinsTTT	ENSP00000418775.1:p.Pro824LeufsTer?
ENST00000493919.5:c.646+1825_646+1826delinsTTT	ENSP00000418819.1:n.646+1825_646+1826delinsTTT
ENST00000586385.5:c.5-28968_5-28967delinsTTT	ENSP00000465818.1:n.5-28968_5-28967delinsTTT
ENST00000591534.5:c.-43-18398_-43-18397delinsTTT	ENSP00000467329.1:n.-43-18398_-43-18397delinsTTT
ENST00000591849.5:c.-99+32352_-99+32353delinsTTT	ENSP00000465347.1:n.-99+32352_-99+32353delinsTTT
NM_007294.3:c.2612_2613delinsTTT , LRG_292t1:c.2612_2613delinsTTT	NP_009225.1:p.Pro871LeufsTer?
NM_007297.3:c.2471_2472delinsTTT	NP_009228.2:p.Pro824LeufsTer?
NM_007298.3:c.787+1825_787+1826delinsTTT	NP_009229.2:n.787+1825_787+1826delinsTTT
NM_007299.3:c.787+1825_787+1826delinsTTT	NP_009230.2:n.787+1825_787+1826delinsTTT
NM_007300.3:c.2612_2613delinsTTT	NP_009231.2:p.Pro871LeufsTer?
NR_027676.1:n.2748_2749delinsTTT
NM_007294.4:c.2612_2613delinsTTT MANE Select	NP_009225.1:p.Pro871LeufsTer?
NM_007297.4:c.2471_2472delinsTTT	NP_009228.2:p.Pro824LeufsTer?
NM_007299.4:c.787+1825_787+1826delinsTTT	NP_009230.2:n.787+1825_787+1826delinsTTT
NM_007300.4:c.2612_2613delinsTTT	NP_009231.2:p.Pro871LeufsTer?
NR_027676.2:n.2789_2790delinsTTT