Canonical Allele Identifier: CA2260777984

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082450_43082451delinsAG , CM000679.2:g.43082450_43082451delinsAG	GRCh38
NC_000017.10:g.41234467_41234468delinsAG , CM000679.1:g.41234467_41234468delinsAG	GRCh37
NC_000017.9:g.38487993_38487994delinsAG	NCBI36
NG_005905.2:g.135533_135534delinsCT , LRG_292:g.135533_135534delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4310_4311delinsCT	ENSP00000417241.2:p.Ser1437=
ENST00000470026.6:c.4310_4311delinsCT	ENSP00000419274.2:p.Ser1437=
ENST00000473961.6:c.4184_4185delinsCT	ENSP00000420201.2:p.Ser1395=
ENST00000476777.6:c.4304_4305delinsCT	ENSP00000417554.2:p.Ser1435=
ENST00000477152.6:c.4232_4233delinsCT	ENSP00000419988.2:p.Ser1411=
ENST00000478531.6:c.998_999delinsCT	ENSP00000420412.2:p.Ser333=
ENST00000489037.2:c.4232_4233delinsCT	ENSP00000420781.2:p.Ser1411=
ENST00000493919.6:c.860_861delinsCT	ENSP00000418819.2:p.Ser287=
ENST00000494123.6:c.4310_4311delinsCT	ENSP00000419103.2:p.Ser1437=
ENST00000497488.2:c.3422_3423delinsCT	ENSP00000418986.2:p.Ser1141=
ENST00000618469.2:c.4310_4311delinsCT	ENSP00000478114.2:p.Ser1437=
ENST00000634433.2:c.4187_4188delinsCT	ENSP00000489431.2:p.Ser1396=
ENST00000644379.2:c.4310_4311delinsCT	ENSP00000496570.2:p.Ser1437=
ENST00000644555.2:c.860_861delinsCT	ENSP00000494614.2:p.Ser287=
ENST00000652672.2:c.4169_4170delinsCT	ENSP00000498906.2:p.Ser1390=
ENST00000484087.6:c.875_876delinsCT	ENSP00000419481.2:p.Ser292=
ENST00000700182.1:c.920_921delinsCT	ENSP00000514849.1:p.Ser307=
ENST00000357654.9:c.4310_4311delinsCT MANE Select	ENSP00000350283.3:p.Ser1437=
ENST00000471181.7:c.4310_4311delinsCT	ENSP00000418960.2:p.Ser1437=
ENST00000644379.1:c.631_632delinsCT
ENST00000352993.7:c.884_885delinsCT	ENSP00000312236.5:p.Ser295=
ENST00000357654.7:c.4310_4311delinsCT	ENSP00000350283.3:p.Ser1437=
ENST00000461221.5:c.*4093_*4094delinsCT	ENSP00000418548.1:n.*4093_*4094delinsCT
ENST00000461574.1:c.604_605delinsCT
ENST00000468300.5:c.1001_1002delinsCT	ENSP00000417148.1:p.Ser334=
ENST00000471181.6:c.4310_4311delinsCT	ENSP00000418960.2:p.Ser1437=
ENST00000478531.5:c.998_999delinsCT	ENSP00000420412.1:p.Ser333=
ENST00000484087.5:c.623_624delinsCT	ENSP00000419481.1:p.Ser208=
ENST00000487825.5:c.626_627delinsCT	ENSP00000418212.1:p.Ser209=
ENST00000491747.6:c.1001_1002delinsCT	ENSP00000420705.2:p.Ser334=
ENST00000493795.5:c.4169_4170delinsCT	ENSP00000418775.1:p.Ser1390=
ENST00000493919.5:c.860_861delinsCT	ENSP00000418819.1:p.Ser287=
ENST00000586385.5:c.5-18500_5-18499delinsCT	ENSP00000465818.1:n.5-18500_5-18499delins...
ENST00000591534.5:c.-43-7930_-43-7929delinsCT	ENSP00000467329.1:n.-43-7930_-43-7929deli...
ENST00000591849.5:c.-98-32261_-98-32260delinsCT	ENSP00000465347.1:n.-98-32261_-98-32260de...
ENST00000621897.1:n.204_205delinsCT
NM_007294.3:c.4310_4311delinsCT , LRG_292t1:c.4310_4311delinsCT	NP_009225.1:p.Ser1437=
NM_007297.3:c.4169_4170delinsCT	NP_009228.2:p.Ser1390=
NM_007298.3:c.1001_1002delinsCT	NP_009229.2:p.Ser334=
NM_007299.3:c.1001_1002delinsCT	NP_009230.2:p.Ser334=
NM_007300.3:c.4310_4311delinsCT	NP_009231.2:p.Ser1437=
NR_027676.1:n.4446_4447delinsCT
NM_007294.4:c.4310_4311delinsCT MANE Select	NP_009225.1:p.Ser1437=
NM_007297.4:c.4169_4170delinsCT	NP_009228.2:p.Ser1390=
NM_007299.4:c.1001_1002delinsCT	NP_009230.2:p.Ser334=
NM_007300.4:c.4310_4311delinsCT	NP_009231.2:p.Ser1437=
NR_027676.2:n.4487_4488delinsCT