Canonical Allele Identifier: CA2260774443

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074355_43074363delinsATGTTTCCG , CM000679.2:g.43074355_43074363delinsATGTTTCCG	GRCh38
NC_000017.10:g.41226372_41226380delinsATGTTTCCG , CM000679.1:g.41226372_41226380delinsATGTTTCCG	GRCh37
NC_000017.9:g.38479898_38479906delinsATGTTTCCG	NCBI36
NG_005905.2:g.143621_143629delinsCGGAAACAT , LRG_292:g.143621_143629delinsCGGAAACAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4640_4648delinsCGGAAACAT	ENSP00000417241.2:p.Thr1547=
ENST00000470026.6:c.4643_4651delinsCGGAAACAT	ENSP00000419274.2:p.Thr1548=
ENST00000473961.6:c.4517_4525delinsCGGAAACAT	ENSP00000420201.2:p.Thr1506=
ENST00000476777.6:c.4637_4645delinsCGGAAACAT	ENSP00000417554.2:p.Thr1546=
ENST00000477152.6:c.4565_4573delinsCGGAAACAT	ENSP00000419988.2:p.Thr1522=
ENST00000478531.6:c.1331_1339delinsCGGAAACAT	ENSP00000420412.2:p.Thr444=
ENST00000489037.2:c.4565_4573delinsCGGAAACAT	ENSP00000420781.2:p.Thr1522=
ENST00000493919.6:c.1193_1201delinsCGGAAACAT	ENSP00000418819.2:p.Thr398=
ENST00000494123.6:c.4643_4651delinsCGGAAACAT	ENSP00000419103.2:p.Thr1548=
ENST00000497488.2:c.3755_3763delinsCGGAAACAT	ENSP00000418986.2:p.Thr1252=
ENST00000618469.2:c.4643_4651delinsCGGAAACAT	ENSP00000478114.2:p.Thr1548=
ENST00000634433.2:c.4520_4528delinsCGGAAACAT	ENSP00000489431.2:p.Thr1507=
ENST00000644379.2:c.4709_4717delinsCGGAAACAT	ENSP00000496570.2:p.Thr1570=
ENST00000644555.2:c.1193_1201delinsCGGAAACAT	ENSP00000494614.2:p.Thr398=
ENST00000652672.2:c.4502_4510delinsCGGAAACAT	ENSP00000498906.2:p.Thr1501=
ENST00000484087.6:c.1205_1213delinsCGGAAACAT	ENSP00000419481.2:p.Thr402=
ENST00000700182.1:c.1250_1258delinsCGGAAACAT	ENSP00000514849.1:p.Thr417=
ENST00000357654.9:c.4643_4651delinsCGGAAACAT MANE Select	ENSP00000350283.3:p.Thr1548=
ENST00000471181.7:c.4706_4714delinsCGGAAACAT	ENSP00000418960.2:p.Thr1569=
ENST00000644379.1:c.1030_1038delinsCGGAAACAT
ENST00000352993.7:c.1217_1225delinsCGGAAACAT	ENSP00000312236.5:p.Thr406=
ENST00000357654.7:c.4643_4651delinsCGGAAACAT	ENSP00000350283.3:p.Thr1548=
ENST00000461221.5:c.*4426_*4434delinsCGGAAACAT	ENSP00000418548.1:n.*4426_*4434delinsCGGAAACAT
ENST00000468300.5:c.1331_1339delinsCGGAAACAT	ENSP00000417148.1:p.Thr444=
ENST00000471181.6:c.4706_4714delinsCGGAAACAT	ENSP00000418960.2:p.Thr1569=
ENST00000478531.5:c.1331_1339delinsCGGAAACAT	ENSP00000420412.1:p.Thr444=
ENST00000484087.5:c.956_964delinsCGGAAACAT	ENSP00000419481.1:p.Thr319=
ENST00000491747.6:c.1331_1339delinsCGGAAACAT	ENSP00000420705.2:p.Thr444=
ENST00000493795.5:c.4502_4510delinsCGGAAACAT	ENSP00000418775.1:p.Thr1501=
ENST00000493919.5:c.1193_1201delinsCGGAAACAT	ENSP00000418819.1:p.Thr398=
ENST00000586385.5:c.5-10412_5-10404delinsCGGAAACAT	ENSP00000465818.1:n.5-10412_5-10404delinsCGGAAACAT
ENST00000591534.5:c.116_124delinsCGGAAACAT	ENSP00000467329.1:p.Thr39=
ENST00000591849.5:c.-98-24173_-98-24165delinsCGGAAACAT	ENSP00000465347.1:n.-98-24173_-98-24165delinsCGGAAACAT
NM_007294.3:c.4643_4651delinsCGGAAACAT , LRG_292t1:c.4643_4651delinsCGGAAACAT	NP_009225.1:p.Thr1548=
NM_007297.3:c.4502_4510delinsCGGAAACAT	NP_009228.2:p.Thr1501=
NM_007298.3:c.1331_1339delinsCGGAAACAT	NP_009229.2:p.Thr444=
NM_007299.3:c.1331_1339delinsCGGAAACAT	NP_009230.2:p.Thr444=
NM_007300.3:c.4706_4714delinsCGGAAACAT	NP_009231.2:p.Thr1569=
NR_027676.1:n.4779_4787delinsCGGAAACAT
NM_007294.4:c.4643_4651delinsCGGAAACAT MANE Select	NP_009225.1:p.Thr1548=
NM_007297.4:c.4502_4510delinsCGGAAACAT	NP_009228.2:p.Thr1501=
NM_007299.4:c.1331_1339delinsCGGAAACAT	NP_009230.2:p.Thr444=
NM_007300.4:c.4706_4714delinsCGGAAACAT	NP_009231.2:p.Thr1569=
NR_027676.2:n.4820_4828delinsCGGAAACAT