Canonical Allele Identifier: CA2260775470

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076524_43076525delinsCT , CM000679.2:g.43076524_43076525delinsCT	GRCh38
NC_000017.10:g.41228541_41228542delinsCT , CM000679.1:g.41228541_41228542delinsCT	GRCh37
NC_000017.9:g.38482067_38482068delinsCT	NCBI36
NG_005905.2:g.141459_141460delinsAG , LRG_292:g.141459_141460delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4444_4445delinsAG	ENSP00000417241.2:p.Ser1482=
ENST00000470026.6:c.4447_4448delinsAG	ENSP00000419274.2:p.Ser1483=
ENST00000473961.6:c.4321_4322delinsAG	ENSP00000420201.2:p.Ser1441=
ENST00000476777.6:c.4441_4442delinsAG	ENSP00000417554.2:p.Ser1481=
ENST00000477152.6:c.4369_4370delinsAG	ENSP00000419988.2:p.Ser1457=
ENST00000478531.6:c.1135_1136delinsAG	ENSP00000420412.2:p.Ser379=
ENST00000489037.2:c.4369_4370delinsAG	ENSP00000420781.2:p.Ser1457=
ENST00000493919.6:c.997_998delinsAG	ENSP00000418819.2:p.Ser333=
ENST00000494123.6:c.4447_4448delinsAG	ENSP00000419103.2:p.Ser1483=
ENST00000497488.2:c.3559_3560delinsAG	ENSP00000418986.2:p.Ser1187=
ENST00000618469.2:c.4447_4448delinsAG	ENSP00000478114.2:p.Ser1483=
ENST00000634433.2:c.4324_4325delinsAG	ENSP00000489431.2:p.Ser1442=
ENST00000644379.2:c.4513_4514delinsAG	ENSP00000496570.2:p.Ser1505=
ENST00000644555.2:c.997_998delinsAG	ENSP00000494614.2:p.Ser333=
ENST00000652672.2:c.4306_4307delinsAG	ENSP00000498906.2:p.Ser1436=
ENST00000484087.6:c.1009_1010delinsAG	ENSP00000419481.2:p.Ser337=
ENST00000700182.1:c.1054_1055delinsAG	ENSP00000514849.1:p.Ser352=
ENST00000357654.9:c.4447_4448delinsAG MANE Select	ENSP00000350283.3:p.Ser1483=
ENST00000471181.7:c.4510_4511delinsAG	ENSP00000418960.2:p.Ser1504=
ENST00000644379.1:c.834_835delinsAG
ENST00000352993.7:c.1021_1022delinsAG	ENSP00000312236.5:p.Ser341=
ENST00000357654.7:c.4447_4448delinsAG	ENSP00000350283.3:p.Ser1483=
ENST00000461221.5:c.*4230_*4231delinsAG	ENSP00000418548.1:n.*4230_*4231delinsAG
ENST00000468300.5:c.1135_1136delinsAG	ENSP00000417148.1:p.Ser379=
ENST00000471181.6:c.4510_4511delinsAG	ENSP00000418960.2:p.Ser1504=
ENST00000478531.5:c.1135_1136delinsAG	ENSP00000420412.1:p.Ser379=
ENST00000484087.5:c.760_761delinsAG	ENSP00000419481.1:p.Ser254=
ENST00000487825.5:c.763_764delinsAG	ENSP00000418212.1:p.Ser255=
ENST00000491747.6:c.1135_1136delinsAG	ENSP00000420705.2:p.Ser379=
ENST00000493795.5:c.4306_4307delinsAG	ENSP00000418775.1:p.Ser1436=
ENST00000493919.5:c.997_998delinsAG	ENSP00000418819.1:p.Ser333=
ENST00000586385.5:c.5-12574_5-12573delinsAG	ENSP00000465818.1:n.5-12574_5-12573delinsAG
ENST00000591534.5:c.-43-2004_-43-2003delinsAG	ENSP00000467329.1:n.-43-2004_-43-2003delinsAG
ENST00000591849.5:c.-98-26335_-98-26334delinsAG	ENSP00000465347.1:n.-98-26335_-98-26334delinsAG
ENST00000621897.1:n.338_339delinsAG
NM_007294.3:c.4447_4448delinsAG , LRG_292t1:c.4447_4448delinsAG	NP_009225.1:p.Ser1483=
NM_007297.3:c.4306_4307delinsAG	NP_009228.2:p.Ser1436=
NM_007298.3:c.1135_1136delinsAG	NP_009229.2:p.Ser379=
NM_007299.3:c.1135_1136delinsAG	NP_009230.2:p.Ser379=
NM_007300.3:c.4510_4511delinsAG	NP_009231.2:p.Ser1504=
NR_027676.1:n.4583_4584delinsAG
NM_007294.4:c.4447_4448delinsAG MANE Select	NP_009225.1:p.Ser1483=
NM_007297.4:c.4306_4307delinsAG	NP_009228.2:p.Ser1436=
NM_007299.4:c.1135_1136delinsAG	NP_009230.2:p.Ser379=
NM_007300.4:c.4510_4511delinsAG	NP_009231.2:p.Ser1504=
NR_027676.2:n.4624_4625delinsAG