Canonical Allele Identifier: CA2260772881

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071066_43071081delinsAGCAGCTGGACTCTGG , CM000679.2:g.43071066_43071081delinsAGCAGCTGGACTCTGG	GRCh38
NC_000017.10:g.41223083_41223098delinsAGCAGCTGGACTCTGG , CM000679.1:g.41223083_41223098delinsAGCAGCTGGACTCTGG	GRCh37
NC_000017.9:g.38476609_38476624delinsAGCAGCTGGACTCTGG	NCBI36
NG_005905.2:g.146903_146918delinsCCAGAGTCCAGCTGCT , LRG_292:g.146903_146918delinsCCAGAGTCCAGCTGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4830_4845delinsCCAGAGTCCAGCTGCT	ENSP00000417241.2:p.Ala1610=
ENST00000470026.6:c.4833_4848delinsCCAGAGTCCAGCTGCT	ENSP00000419274.2:p.Ala1611=
ENST00000473961.6:c.4707_4722delinsCCAGAGTCCAGCTGCT	ENSP00000420201.2:p.Ala1569=
ENST00000476777.6:c.4827_4842delinsCCAGAGTCCAGCTGCT	ENSP00000417554.2:p.Ala1609=
ENST00000477152.6:c.4755_4770delinsCCAGAGTCCAGCTGCT	ENSP00000419988.2:p.Ala1585=
ENST00000478531.6:c.1521_1536delinsCCAGAGTCCAGCTGCT	ENSP00000420412.2:p.Ala507=
ENST00000489037.2:c.4755_4770delinsCCAGAGTCCAGCTGCT	ENSP00000420781.2:p.Ala1585=
ENST00000493919.6:c.1383_1398delinsCCAGAGTCCAGCTGCT	ENSP00000418819.2:p.Ala461=
ENST00000494123.6:c.4833_4848delinsCCAGAGTCCAGCTGCT	ENSP00000419103.2:p.Ala1611=
ENST00000497488.2:c.3945_3960delinsCCAGAGTCCAGCTGCT	ENSP00000418986.2:p.Ala1315=
ENST00000618469.2:c.4833_4848delinsCCAGAGTCCAGCTGCT	ENSP00000478114.2:p.Ala1611=
ENST00000634433.2:c.4710_4725delinsCCAGAGTCCAGCTGCT	ENSP00000489431.2:p.Ala1570=
ENST00000644379.2:c.4899_4914delinsCCAGAGTCCAGCTGCT	ENSP00000496570.2:p.Ala1633=
ENST00000644555.2:c.1383_1398delinsCCAGAGTCCAGCTGCT	ENSP00000494614.2:p.Ala461=
ENST00000652672.2:c.4692_4707delinsCCAGAGTCCAGCTGCT	ENSP00000498906.2:p.Ala1564=
ENST00000484087.6:c.1395_1410delinsCCAGAGTCCAGCTGCT	ENSP00000419481.2:p.Ala465=
ENST00000700182.1:c.1440_1455delinsCCAGAGTCCAGCTGCT	ENSP00000514849.1:p.Ala480=
ENST00000357654.9:c.4833_4848delinsCCAGAGTCCAGCTGCT MANE Select	ENSP00000350283.3:p.Ala1611=
ENST00000471181.7:c.4896_4911delinsCCAGAGTCCAGCTGCT	ENSP00000418960.2:p.Ala1632=
ENST00000644379.1:c.1220_1235delinsCCAGAGTCCAGCTGCT
ENST00000352993.7:c.1407_1422delinsCCAGAGTCCAGCTGCT	ENSP00000312236.5:p.Ala469=
ENST00000357654.7:c.4833_4848delinsCCAGAGTCCAGCTGCT	ENSP00000350283.3:p.Ala1611=
ENST00000461221.5:c.*4616_*4631delinsCCAGAGTCCAGCTGCT	ENSP00000418548.1:n.*4616_*4631delinsCCAG...
ENST00000468300.5:c.1521_1536delinsCCAGAGTCCAGCTGCT	ENSP00000417148.1:p.Ala507=
ENST00000471181.6:c.4896_4911delinsCCAGAGTCCAGCTGCT	ENSP00000418960.2:p.Ala1632=
ENST00000478531.5:c.1521_1536delinsCCAGAGTCCAGCTGCT	ENSP00000420412.1:p.Ala507=
ENST00000484087.5:c.1146_1161delinsCCAGAGTCCAGCTGCT	ENSP00000419481.1:p.Ala382=
ENST00000491747.6:c.1521_1536delinsCCAGAGTCCAGCTGCT	ENSP00000420705.2:p.Ala507=
ENST00000493795.5:c.4692_4707delinsCCAGAGTCCAGCTGCT	ENSP00000418775.1:p.Ala1564=
ENST00000493919.5:c.1383_1398delinsCCAGAGTCCAGCTGCT	ENSP00000418819.1:p.Ala461=
ENST00000586385.5:c.5-7130_5-7115delinsCCAGAGTCCAGCTGCT	ENSP00000465818.1:n.5-7130_5-7115delinsCC...
ENST00000591534.5:c.306_321delinsCCAGAGTCCAGCTGCT	ENSP00000467329.1:p.Ala102=
ENST00000591849.5:c.-98-20891_-98-20876delinsCCAGAGTCCAGCTGCT	ENSP00000465347.1:n.-98-20891_-98-20876de...
NM_007294.3:c.4833_4848delinsCCAGAGTCCAGCTGCT , LRG_292t1:c.4833_4848delinsCCAGAGTCCAGCTGCT	NP_009225.1:p.Ala1611=
NM_007297.3:c.4692_4707delinsCCAGAGTCCAGCTGCT	NP_009228.2:p.Ala1564=
NM_007298.3:c.1521_1536delinsCCAGAGTCCAGCTGCT	NP_009229.2:p.Ala507=
NM_007299.3:c.1521_1536delinsCCAGAGTCCAGCTGCT	NP_009230.2:p.Ala507=
NM_007300.3:c.4896_4911delinsCCAGAGTCCAGCTGCT	NP_009231.2:p.Ala1632=
NR_027676.1:n.4969_4984delinsCCAGAGTCCAGCTGCT
NM_007294.4:c.4833_4848delinsCCAGAGTCCAGCTGCT MANE Select	NP_009225.1:p.Ala1611=
NM_007297.4:c.4692_4707delinsCCAGAGTCCAGCTGCT	NP_009228.2:p.Ala1564=
NM_007299.4:c.1521_1536delinsCCAGAGTCCAGCTGCT	NP_009230.2:p.Ala507=
NM_007300.4:c.4896_4911delinsCCAGAGTCCAGCTGCT	NP_009231.2:p.Ala1632=
NR_027676.2:n.5010_5025delinsCCAGAGTCCAGCTGCT