Canonical Allele Identifier: CA2260775526

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076580_43076581delinsAG , CM000679.2:g.43076580_43076581delinsAG	GRCh38
NC_000017.10:g.41228597_41228598delinsAG , CM000679.1:g.41228597_41228598delinsAG	GRCh37
NC_000017.9:g.38482123_38482124delinsAG	NCBI36
NG_005905.2:g.141403_141404delinsCT , LRG_292:g.141403_141404delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4388_4389delinsCT	ENSP00000417241.2:p.Pro1463=
ENST00000470026.6:c.4391_4392delinsCT	ENSP00000419274.2:p.Pro1464=
ENST00000473961.6:c.4265_4266delinsCT	ENSP00000420201.2:p.Pro1422=
ENST00000476777.6:c.4385_4386delinsCT	ENSP00000417554.2:p.Pro1462=
ENST00000477152.6:c.4313_4314delinsCT	ENSP00000419988.2:p.Pro1438=
ENST00000478531.6:c.1079_1080delinsCT	ENSP00000420412.2:p.Pro360=
ENST00000489037.2:c.4313_4314delinsCT	ENSP00000420781.2:p.Pro1438=
ENST00000493919.6:c.941_942delinsCT	ENSP00000418819.2:p.Pro314=
ENST00000494123.6:c.4391_4392delinsCT	ENSP00000419103.2:p.Pro1464=
ENST00000497488.2:c.3503_3504delinsCT	ENSP00000418986.2:p.Pro1168=
ENST00000618469.2:c.4391_4392delinsCT	ENSP00000478114.2:p.Pro1464=
ENST00000634433.2:c.4268_4269delinsCT	ENSP00000489431.2:p.Pro1423=
ENST00000644379.2:c.4457_4458delinsCT	ENSP00000496570.2:p.Pro1486=
ENST00000644555.2:c.941_942delinsCT	ENSP00000494614.2:p.Pro314=
ENST00000652672.2:c.4250_4251delinsCT	ENSP00000498906.2:p.Pro1417=
ENST00000484087.6:c.953_954delinsCT	ENSP00000419481.2:p.Pro318=
ENST00000700182.1:c.998_999delinsCT	ENSP00000514849.1:p.Pro333=
ENST00000357654.9:c.4391_4392delinsCT MANE Select	ENSP00000350283.3:p.Pro1464=
ENST00000471181.7:c.4454_4455delinsCT	ENSP00000418960.2:p.Pro1485=
ENST00000644379.1:c.778_779delinsCT
ENST00000352993.7:c.965_966delinsCT	ENSP00000312236.5:p.Pro322=
ENST00000357654.7:c.4391_4392delinsCT	ENSP00000350283.3:p.Pro1464=
ENST00000461221.5:c.*4174_*4175delinsCT	ENSP00000418548.1:n.*4174_*4175delinsCT
ENST00000461574.1:c.682_683delinsCT
ENST00000468300.5:c.1079_1080delinsCT	ENSP00000417148.1:p.Pro360=
ENST00000471181.6:c.4454_4455delinsCT	ENSP00000418960.2:p.Pro1485=
ENST00000478531.5:c.1079_1080delinsCT	ENSP00000420412.1:p.Pro360=
ENST00000484087.5:c.704_705delinsCT	ENSP00000419481.1:p.Pro235=
ENST00000487825.5:c.707_708delinsCT	ENSP00000418212.1:p.Pro236=
ENST00000491747.6:c.1079_1080delinsCT	ENSP00000420705.2:p.Pro360=
ENST00000493795.5:c.4250_4251delinsCT	ENSP00000418775.1:p.Pro1417=
ENST00000493919.5:c.941_942delinsCT	ENSP00000418819.1:p.Pro314=
ENST00000586385.5:c.5-12630_5-12629delinsCT	ENSP00000465818.1:n.5-12630_5-12629delins...
ENST00000591534.5:c.-43-2060_-43-2059delinsCT	ENSP00000467329.1:n.-43-2060_-43-2059deli...
ENST00000591849.5:c.-98-26391_-98-26390delinsCT	ENSP00000465347.1:n.-98-26391_-98-26390de...
ENST00000621897.1:n.282_283delinsCT
NM_007294.3:c.4391_4392delinsCT , LRG_292t1:c.4391_4392delinsCT	NP_009225.1:p.Pro1464=
NM_007297.3:c.4250_4251delinsCT	NP_009228.2:p.Pro1417=
NM_007298.3:c.1079_1080delinsCT	NP_009229.2:p.Pro360=
NM_007299.3:c.1079_1080delinsCT	NP_009230.2:p.Pro360=
NM_007300.3:c.4454_4455delinsCT	NP_009231.2:p.Pro1485=
NR_027676.1:n.4527_4528delinsCT
NM_007294.4:c.4391_4392delinsCT MANE Select	NP_009225.1:p.Pro1464=
NM_007297.4:c.4250_4251delinsCT	NP_009228.2:p.Pro1417=
NM_007299.4:c.1079_1080delinsCT	NP_009230.2:p.Pro360=
NM_007300.4:c.4454_4455delinsCT	NP_009231.2:p.Pro1485=
NR_027676.2:n.4568_4569delinsCT