Canonical Allele Identifier: CA2260782257

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091766_43091768delinsGTT , CM000679.2:g.43091766_43091768delinsGTT	GRCh38
NC_000017.10:g.41243783_41243785delinsGTT , CM000679.1:g.41243783_41243785delinsGTT	GRCh37
NC_000017.9:g.38497309_38497311delinsGTT	NCBI36
NG_005905.2:g.126216_126218delinsAAC , LRG_292:g.126216_126218delinsAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3827_3829delinsAAC
ENST00000461574.2:c.3763_3765delinsAAC	ENSP00000417241.2:p.Asn1255=
ENST00000470026.6:c.3763_3765delinsAAC	ENSP00000419274.2:p.Asn1255=
ENST00000473961.6:c.3637_3639delinsAAC	ENSP00000420201.2:p.Asn1213=
ENST00000476777.6:c.3760_3762delinsAAC	ENSP00000417554.2:p.Asn1254=
ENST00000477152.6:c.3685_3687delinsAAC	ENSP00000419988.2:p.Asn1229=
ENST00000478531.6:c.785-736_785-734delinsAAC	ENSP00000420412.2:n.785-736_785-734delins...
ENST00000489037.2:c.3685_3687delinsAAC	ENSP00000420781.2:p.Asn1229=
ENST00000493919.6:c.647-736_647-734delinsAAC	ENSP00000418819.2:n.647-736_647-734delins...
ENST00000494123.6:c.3763_3765delinsAAC	ENSP00000419103.2:p.Asn1255=
ENST00000497488.2:c.2875_2877delinsAAC	ENSP00000418986.2:p.Asn959=
ENST00000618469.2:c.3763_3765delinsAAC	ENSP00000478114.2:p.Asn1255=
ENST00000634433.2:c.3640_3642delinsAAC	ENSP00000489431.2:p.Asn1214=
ENST00000644379.2:c.3763_3765delinsAAC	ENSP00000496570.2:p.Asn1255=
ENST00000644555.2:c.647-736_647-734delinsAAC	ENSP00000494614.2:n.647-736_647-734delins...
ENST00000652672.2:c.3622_3624delinsAAC	ENSP00000498906.2:p.Asn1208=
ENST00000484087.6:c.665-736_665-734delinsAAC	ENSP00000419481.2:n.665-736_665-734delins...
ENST00000700182.1:c.707-736_707-734delinsAAC	ENSP00000514849.1:n.707-736_707-734delins...
ENST00000357654.9:c.3763_3765delinsAAC MANE Select	ENSP00000350283.3:p.Asn1255=
ENST00000471181.7:c.3763_3765delinsAAC	ENSP00000418960.2:p.Asn1255=
ENST00000644379.1:c.84_86delinsAAC
ENST00000352993.7:c.671-736_671-734delinsAAC	ENSP00000312236.5:n.671-736_671-734delins...
ENST00000354071.7:c.3763_3765delinsAAC	ENSP00000326002.7:p.Asn1255=
ENST00000357654.7:c.3763_3765delinsAAC	ENSP00000350283.3:p.Asn1255=
ENST00000461221.5:c.*3546_*3548delinsAAC	ENSP00000418548.1:n.*3546_*3548delinsAAC
ENST00000461574.1:c.57_59delinsAAC
ENST00000468300.5:c.788-736_788-734delinsAAC	ENSP00000417148.1:n.788-736_788-734delins...
ENST00000471181.6:c.3763_3765delinsAAC	ENSP00000418960.2:p.Asn1255=
ENST00000478531.5:c.785-736_785-734delinsAAC	ENSP00000420412.1:n.785-736_785-734delins...
ENST00000484087.5:c.410-736_410-734delinsAAC	ENSP00000419481.1:n.410-736_410-734delins...
ENST00000487825.5:c.413-736_413-734delinsAAC	ENSP00000418212.1:n.413-736_413-734delins...
ENST00000491747.6:c.788-736_788-734delinsAAC	ENSP00000420705.2:n.788-736_788-734delins...
ENST00000493795.5:c.3622_3624delinsAAC	ENSP00000418775.1:p.Asn1208=
ENST00000493919.5:c.647-736_647-734delinsAAC	ENSP00000418819.1:n.647-736_647-734delins...
ENST00000586385.5:c.5-27817_5-27815delinsAAC	ENSP00000465818.1:n.5-27817_5-27815delins...
ENST00000591534.5:c.-43-17247_-43-17245delinsAAC	ENSP00000467329.1:n.-43-17247_-43-17245de...
ENST00000591849.5:c.-99+33503_-99+33505delinsAAC	ENSP00000465347.1:n.-99+33503_-99+33505de...
NM_007294.3:c.3763_3765delinsAAC , LRG_292t1:c.3763_3765delinsAAC	NP_009225.1:p.Asn1255=
NM_007297.3:c.3622_3624delinsAAC	NP_009228.2:p.Asn1208=
NM_007298.3:c.788-736_788-734delinsAAC	NP_009229.2:n.788-736_788-734delinsAAC
NM_007299.3:c.788-736_788-734delinsAAC	NP_009230.2:n.788-736_788-734delinsAAC
NM_007300.3:c.3763_3765delinsAAC	NP_009231.2:p.Asn1255=
NR_027676.1:n.3899_3901delinsAAC
NM_007294.4:c.3763_3765delinsAAC MANE Select	NP_009225.1:p.Asn1255=
NM_007297.4:c.3622_3624delinsAAC	NP_009228.2:p.Asn1208=
NM_007299.4:c.788-736_788-734delinsAAC	NP_009230.2:n.788-736_788-734delinsAAC
NM_007300.4:c.3763_3765delinsAAC	NP_009231.2:p.Asn1255=
NR_027676.2:n.3940_3942delinsAAC