Canonical Allele Identifier: CA2260775498

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076554_43076556delinsGAA , CM000679.2:g.43076554_43076556delinsGAA	GRCh38
NC_000017.10:g.41228571_41228573delinsGAA , CM000679.1:g.41228571_41228573delinsGAA	GRCh37
NC_000017.9:g.38482097_38482099delinsGAA	NCBI36
NG_005905.2:g.141428_141430delinsTTC , LRG_292:g.141428_141430delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4413_4415delinsTTC	ENSP00000417241.2:p.Leu1471=
ENST00000470026.6:c.4416_4418delinsTTC	ENSP00000419274.2:p.Leu1472=
ENST00000473961.6:c.4290_4292delinsTTC	ENSP00000420201.2:p.Leu1430=
ENST00000476777.6:c.4410_4412delinsTTC	ENSP00000417554.2:p.Leu1470=
ENST00000477152.6:c.4338_4340delinsTTC	ENSP00000419988.2:p.Leu1446=
ENST00000478531.6:c.1104_1106delinsTTC	ENSP00000420412.2:p.Leu368=
ENST00000489037.2:c.4338_4340delinsTTC	ENSP00000420781.2:p.Leu1446=
ENST00000493919.6:c.966_968delinsTTC	ENSP00000418819.2:p.Leu322=
ENST00000494123.6:c.4416_4418delinsTTC	ENSP00000419103.2:p.Leu1472=
ENST00000497488.2:c.3528_3530delinsTTC	ENSP00000418986.2:p.Leu1176=
ENST00000618469.2:c.4416_4418delinsTTC	ENSP00000478114.2:p.Leu1472=
ENST00000634433.2:c.4293_4295delinsTTC	ENSP00000489431.2:p.Leu1431=
ENST00000644379.2:c.4482_4484delinsTTC	ENSP00000496570.2:p.Leu1494=
ENST00000644555.2:c.966_968delinsTTC	ENSP00000494614.2:p.Leu322=
ENST00000652672.2:c.4275_4277delinsTTC	ENSP00000498906.2:p.Leu1425=
ENST00000484087.6:c.978_980delinsTTC	ENSP00000419481.2:p.Leu326=
ENST00000700182.1:c.1023_1025delinsTTC	ENSP00000514849.1:p.Leu341=
ENST00000357654.9:c.4416_4418delinsTTC MANE Select	ENSP00000350283.3:p.Leu1472=
ENST00000471181.7:c.4479_4481delinsTTC	ENSP00000418960.2:p.Leu1493=
ENST00000644379.1:c.803_805delinsTTC
ENST00000352993.7:c.990_992delinsTTC	ENSP00000312236.5:p.Leu330=
ENST00000357654.7:c.4416_4418delinsTTC	ENSP00000350283.3:p.Leu1472=
ENST00000461221.5:c.*4199_*4201delinsTTC	ENSP00000418548.1:n.*4199_*4201delinsTTC
ENST00000461574.1:c.707_709delinsTTC
ENST00000468300.5:c.1104_1106delinsTTC	ENSP00000417148.1:p.Leu368=
ENST00000471181.6:c.4479_4481delinsTTC	ENSP00000418960.2:p.Leu1493=
ENST00000478531.5:c.1104_1106delinsTTC	ENSP00000420412.1:p.Leu368=
ENST00000484087.5:c.729_731delinsTTC	ENSP00000419481.1:p.Leu243=
ENST00000487825.5:c.732_734delinsTTC	ENSP00000418212.1:p.Leu244=
ENST00000491747.6:c.1104_1106delinsTTC	ENSP00000420705.2:p.Leu368=
ENST00000493795.5:c.4275_4277delinsTTC	ENSP00000418775.1:p.Leu1425=
ENST00000493919.5:c.966_968delinsTTC	ENSP00000418819.1:p.Leu322=
ENST00000586385.5:c.5-12605_5-12603delinsTTC	ENSP00000465818.1:n.5-12605_5-12603delinsTTC
ENST00000591534.5:c.-43-2035_-43-2033delinsTTC	ENSP00000467329.1:n.-43-2035_-43-2033delinsTTC
ENST00000591849.5:c.-98-26366_-98-26364delinsTTC	ENSP00000465347.1:n.-98-26366_-98-26364delinsTTC
ENST00000621897.1:n.307_309delinsTTC
NM_007294.3:c.4416_4418delinsTTC , LRG_292t1:c.4416_4418delinsTTC	NP_009225.1:p.Leu1472=
NM_007297.3:c.4275_4277delinsTTC	NP_009228.2:p.Leu1425=
NM_007298.3:c.1104_1106delinsTTC	NP_009229.2:p.Leu368=
NM_007299.3:c.1104_1106delinsTTC	NP_009230.2:p.Leu368=
NM_007300.3:c.4479_4481delinsTTC	NP_009231.2:p.Leu1493=
NR_027676.1:n.4552_4554delinsTTC
NM_007294.4:c.4416_4418delinsTTC MANE Select	NP_009225.1:p.Leu1472=
NM_007297.4:c.4275_4277delinsTTC	NP_009228.2:p.Leu1425=
NM_007299.4:c.1104_1106delinsTTC	NP_009230.2:p.Leu368=
NM_007300.4:c.4479_4481delinsTTC	NP_009231.2:p.Leu1493=
NR_027676.2:n.4593_4595delinsTTC