Canonical Allele Identifier: CA2260778021

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082494_43082495delinsTC , CM000679.2:g.43082494_43082495delinsTC	GRCh38
NC_000017.10:g.41234511_41234512delinsTC , CM000679.1:g.41234511_41234512delinsTC	GRCh37
NC_000017.9:g.38488037_38488038delinsTC	NCBI36
NG_005905.2:g.135489_135490delinsGA , LRG_292:g.135489_135490delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4266_4267delinsGA	ENSP00000417241.2:p.Gly1422=
ENST00000470026.6:c.4266_4267delinsGA	ENSP00000419274.2:p.Gly1422=
ENST00000473961.6:c.4140_4141delinsGA	ENSP00000420201.2:p.Gly1380=
ENST00000476777.6:c.4260_4261delinsGA	ENSP00000417554.2:p.Gly1420=
ENST00000477152.6:c.4188_4189delinsGA	ENSP00000419988.2:p.Gly1396=
ENST00000478531.6:c.954_955delinsGA	ENSP00000420412.2:p.Gly318=
ENST00000489037.2:c.4188_4189delinsGA	ENSP00000420781.2:p.Gly1396=
ENST00000493919.6:c.816_817delinsGA	ENSP00000418819.2:p.Gly272=
ENST00000494123.6:c.4266_4267delinsGA	ENSP00000419103.2:p.Gly1422=
ENST00000497488.2:c.3378_3379delinsGA	ENSP00000418986.2:p.Gly1126=
ENST00000618469.2:c.4266_4267delinsGA	ENSP00000478114.2:p.Gly1422=
ENST00000634433.2:c.4143_4144delinsGA	ENSP00000489431.2:p.Gly1381=
ENST00000644379.2:c.4266_4267delinsGA	ENSP00000496570.2:p.Gly1422=
ENST00000644555.2:c.816_817delinsGA	ENSP00000494614.2:p.Gly272=
ENST00000652672.2:c.4125_4126delinsGA	ENSP00000498906.2:p.Gly1375=
ENST00000484087.6:c.831_832delinsGA	ENSP00000419481.2:p.Gly277=
ENST00000700182.1:c.876_877delinsGA	ENSP00000514849.1:p.Gly292=
ENST00000357654.9:c.4266_4267delinsGA MANE Select	ENSP00000350283.3:p.Gly1422=
ENST00000471181.7:c.4266_4267delinsGA	ENSP00000418960.2:p.Gly1422=
ENST00000644379.1:c.587_588delinsGA
ENST00000352993.7:c.840_841delinsGA	ENSP00000312236.5:p.Gly280=
ENST00000357654.7:c.4266_4267delinsGA	ENSP00000350283.3:p.Gly1422=
ENST00000461221.5:c.*4049_*4050delinsGA	ENSP00000418548.1:n.*4049_*4050delinsGA
ENST00000461574.1:c.560_561delinsGA
ENST00000468300.5:c.957_958delinsGA	ENSP00000417148.1:p.Gly319=
ENST00000471181.6:c.4266_4267delinsGA	ENSP00000418960.2:p.Gly1422=
ENST00000478531.5:c.954_955delinsGA	ENSP00000420412.1:p.Gly318=
ENST00000484087.5:c.579_580delinsGA	ENSP00000419481.1:p.Gly193=
ENST00000487825.5:c.582_583delinsGA	ENSP00000418212.1:p.Gly194=
ENST00000491747.6:c.957_958delinsGA	ENSP00000420705.2:p.Gly319=
ENST00000493795.5:c.4125_4126delinsGA	ENSP00000418775.1:p.Gly1375=
ENST00000493919.5:c.816_817delinsGA	ENSP00000418819.1:p.Gly272=
ENST00000586385.5:c.5-18544_5-18543delinsGA	ENSP00000465818.1:n.5-18544_5-18543delins...
ENST00000591534.5:c.-43-7974_-43-7973delinsGA	ENSP00000467329.1:n.-43-7974_-43-7973deli...
ENST00000591849.5:c.-98-32305_-98-32304delinsGA	ENSP00000465347.1:n.-98-32305_-98-32304de...
ENST00000621897.1:n.160_161delinsGA
NM_007294.3:c.4266_4267delinsGA , LRG_292t1:c.4266_4267delinsGA	NP_009225.1:p.Gly1422=
NM_007297.3:c.4125_4126delinsGA	NP_009228.2:p.Gly1375=
NM_007298.3:c.957_958delinsGA	NP_009229.2:p.Gly319=
NM_007299.3:c.957_958delinsGA	NP_009230.2:p.Gly319=
NM_007300.3:c.4266_4267delinsGA	NP_009231.2:p.Gly1422=
NR_027676.1:n.4402_4403delinsGA
NM_007294.4:c.4266_4267delinsGA MANE Select	NP_009225.1:p.Gly1422=
NM_007297.4:c.4125_4126delinsGA	NP_009228.2:p.Gly1375=
NM_007299.4:c.957_958delinsGA	NP_009230.2:p.Gly319=
NM_007300.4:c.4266_4267delinsGA	NP_009231.2:p.Gly1422=
NR_027676.2:n.4443_4444delinsGA