Canonical Allele Identifier: CA2260782701

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092189_43092192delinsTTCA , CM000679.2:g.43092189_43092192delinsTTCA	GRCh38
NC_000017.10:g.41244206_41244209delinsTTCA , CM000679.1:g.41244206_41244209delinsTTCA	GRCh37
NC_000017.9:g.38497732_38497735delinsTTCA	NCBI36
NG_005905.2:g.125792_125795delinsTGAA , LRG_292:g.125792_125795delinsTGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3403_3406delinsTGAA
ENST00000461574.2:c.3339_3342delinsTGAA	ENSP00000417241.2:p.Tyr1113=
ENST00000470026.6:c.3339_3342delinsTGAA	ENSP00000419274.2:p.Tyr1113=
ENST00000473961.6:c.3213_3216delinsTGAA	ENSP00000420201.2:p.Tyr1071=
ENST00000476777.6:c.3336_3339delinsTGAA	ENSP00000417554.2:p.Tyr1112=
ENST00000477152.6:c.3261_3264delinsTGAA	ENSP00000419988.2:p.Tyr1087=
ENST00000478531.6:c.785-1160_785-1157delinsTGAA	ENSP00000420412.2:n.785-1160_785-1157deli...
ENST00000489037.2:c.3261_3264delinsTGAA	ENSP00000420781.2:p.Tyr1087=
ENST00000493919.6:c.647-1160_647-1157delinsTGAA	ENSP00000418819.2:n.647-1160_647-1157deli...
ENST00000494123.6:c.3339_3342delinsTGAA	ENSP00000419103.2:p.Tyr1113=
ENST00000497488.2:c.2451_2454delinsTGAA	ENSP00000418986.2:p.Tyr817=
ENST00000618469.2:c.3339_3342delinsTGAA	ENSP00000478114.2:p.Tyr1113=
ENST00000634433.2:c.3216_3219delinsTGAA	ENSP00000489431.2:p.Tyr1072=
ENST00000644379.2:c.3339_3342delinsTGAA	ENSP00000496570.2:p.Tyr1113=
ENST00000644555.2:c.647-1160_647-1157delinsTGAA	ENSP00000494614.2:n.647-1160_647-1157deli...
ENST00000652672.2:c.3198_3201delinsTGAA	ENSP00000498906.2:p.Tyr1066=
ENST00000484087.6:c.665-1160_665-1157delinsTGAA	ENSP00000419481.2:n.665-1160_665-1157deli...
ENST00000700182.1:c.707-1160_707-1157delinsTGAA	ENSP00000514849.1:n.707-1160_707-1157deli...
ENST00000357654.9:c.3339_3342delinsTGAA MANE Select	ENSP00000350283.3:p.Tyr1113=
ENST00000471181.7:c.3339_3342delinsTGAA	ENSP00000418960.2:p.Tyr1113=
ENST00000352993.7:c.671-1160_671-1157delinsTGAA	ENSP00000312236.5:n.671-1160_671-1157deli...
ENST00000354071.7:c.3339_3342delinsTGAA	ENSP00000326002.7:p.Tyr1113=
ENST00000357654.7:c.3339_3342delinsTGAA	ENSP00000350283.3:p.Tyr1113=
ENST00000461221.5:c.*3122_*3125delinsTGAA	ENSP00000418548.1:n.*3122_*3125delinsTGAA...
ENST00000468300.5:c.788-1160_788-1157delinsTGAA	ENSP00000417148.1:n.788-1160_788-1157deli...
ENST00000471181.6:c.3339_3342delinsTGAA	ENSP00000418960.2:p.Tyr1113=
ENST00000478531.5:c.785-1160_785-1157delinsTGAA	ENSP00000420412.1:n.785-1160_785-1157deli...
ENST00000484087.5:c.410-1160_410-1157delinsTGAA	ENSP00000419481.1:n.410-1160_410-1157deli...
ENST00000487825.5:c.413-1160_413-1157delinsTGAA	ENSP00000418212.1:n.413-1160_413-1157deli...
ENST00000491747.6:c.788-1160_788-1157delinsTGAA	ENSP00000420705.2:n.788-1160_788-1157deli...
ENST00000493795.5:c.3198_3201delinsTGAA	ENSP00000418775.1:p.Tyr1066=
ENST00000493919.5:c.647-1160_647-1157delinsTGAA	ENSP00000418819.1:n.647-1160_647-1157deli...
ENST00000586385.5:c.5-28241_5-28238delinsTGAA	ENSP00000465818.1:n.5-28241_5-28238delins...
ENST00000591534.5:c.-43-17671_-43-17668delinsTGAA	ENSP00000467329.1:n.-43-17671_-43-17668de...
ENST00000591849.5:c.-99+33079_-99+33082delinsTGAA	ENSP00000465347.1:n.-99+33079_-99+33082de...
NM_007294.3:c.3339_3342delinsTGAA , LRG_292t1:c.3339_3342delinsTGAA	NP_009225.1:p.Tyr1113=
NM_007297.3:c.3198_3201delinsTGAA	NP_009228.2:p.Tyr1066=
NM_007298.3:c.788-1160_788-1157delinsTGAA	NP_009229.2:n.788-1160_788-1157delinsTGAA...
NM_007299.3:c.788-1160_788-1157delinsTGAA	NP_009230.2:n.788-1160_788-1157delinsTGAA...
NM_007300.3:c.3339_3342delinsTGAA	NP_009231.2:p.Tyr1113=
NR_027676.1:n.3475_3478delinsTGAA
NM_007294.4:c.3339_3342delinsTGAA MANE Select	NP_009225.1:p.Tyr1113=
NM_007297.4:c.3198_3201delinsTGAA	NP_009228.2:p.Tyr1066=
NM_007299.4:c.788-1160_788-1157delinsTGAA	NP_009230.2:n.788-1160_788-1157delinsTGAA...
NM_007300.4:c.3339_3342delinsTGAA	NP_009231.2:p.Tyr1113=
NR_027676.2:n.3516_3519delinsTGAA