Canonical Allele Identifier: CA2499224402

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1174602
• ClinVar RCV Id: RCV001528198 ; RCV002329658
• dbSNP Id: rs2153992821

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074360_43074361dup , CM000679.2:g.43074360_43074361dup	GRCh38
NC_000017.10:g.41226377_41226378dup , CM000679.1:g.41226377_41226378dup	GRCh37
NC_000017.9:g.38479903_38479904dup	NCBI36
NG_005905.2:g.143623_143624dup , LRG_292:g.143623_143624dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4642_4643dup	ENSP00000417241.2:p.Thr1549LysfsTer10
ENST00000470026.6:c.4645_4646dup	ENSP00000419274.2:p.Thr1550LysfsTer10
ENST00000473961.6:c.4519_4520dup	ENSP00000420201.2:p.Thr1508LysfsTer10
ENST00000476777.6:c.4639_4640dup	ENSP00000417554.2:p.Thr1548LysfsTer10
ENST00000477152.6:c.4567_4568dup	ENSP00000419988.2:p.Thr1524LysfsTer10
ENST00000478531.6:c.1333_1334dup	ENSP00000420412.2:p.Thr446LysfsTer10
ENST00000489037.2:c.4567_4568dup	ENSP00000420781.2:p.Thr1524LysfsTer10
ENST00000493919.6:c.1195_1196dup	ENSP00000418819.2:p.Thr400LysfsTer10
ENST00000494123.6:c.4645_4646dup	ENSP00000419103.2:p.Thr1550LysfsTer10
ENST00000497488.2:c.3757_3758dup	ENSP00000418986.2:p.Thr1254LysfsTer10
ENST00000618469.2:c.4645_4646dup	ENSP00000478114.2:p.Thr1550LysfsTer10
ENST00000634433.2:c.4522_4523dup	ENSP00000489431.2:p.Thr1509LysfsTer10
ENST00000644379.2:c.4711_4712dup	ENSP00000496570.2:p.Thr1572LysfsTer10
ENST00000644555.2:c.1195_1196dup	ENSP00000494614.2:p.Thr400LysfsTer10
ENST00000652672.2:c.4504_4505dup	ENSP00000498906.2:p.Thr1503LysfsTer10
ENST00000484087.6:c.1207_1208dup	ENSP00000419481.2:p.Thr404LysfsTer10
ENST00000700182.1:c.1252_1253dup	ENSP00000514849.1:p.Thr419LysfsTer10
ENST00000357654.9:c.4645_4646dup MANE Select	ENSP00000350283.3:p.Thr1550LysfsTer10
ENST00000471181.7:c.4708_4709dup	ENSP00000418960.2:p.Thr1571LysfsTer10
ENST00000644379.1:c.1032_1033dup
ENST00000352993.7:c.1219_1220dup	ENSP00000312236.5:p.Thr408LysfsTer10
ENST00000357654.7:c.4645_4646dup	ENSP00000350283.3:p.Thr1550LysfsTer10
ENST00000461221.5:c.*4428_*4429dup	ENSP00000418548.1:n.*4428_*4429dup
ENST00000468300.5:c.1333_1334dup	ENSP00000417148.1:p.Thr446LysfsTer10
ENST00000471181.6:c.4708_4709dup	ENSP00000418960.2:p.Thr1571LysfsTer10
ENST00000478531.5:c.1333_1334dup	ENSP00000420412.1:p.Thr446LysfsTer10
ENST00000484087.5:c.958_959dup	ENSP00000419481.1:p.Thr321LysfsTer10
ENST00000491747.6:c.1333_1334dup	ENSP00000420705.2:p.Thr446LysfsTer10
ENST00000493795.5:c.4504_4505dup	ENSP00000418775.1:p.Thr1503LysfsTer10
ENST00000493919.5:c.1195_1196dup	ENSP00000418819.1:p.Thr400LysfsTer10
ENST00000586385.5:c.5-10410_5-10409dup	ENSP00000465818.1:n.5-10410_5-10409dup
ENST00000591534.5:c.118_119dup	ENSP00000467329.1:p.Thr41LysfsTer10
ENST00000591849.5:c.-98-24171_-98-24170dup	ENSP00000465347.1:n.-98-24171_-98-24170dup
NM_007294.3:c.4645_4646dup , LRG_292t1:c.4645_4646dup	NP_009225.1:p.Thr1550LysfsTer10
NM_007297.3:c.4504_4505dup	NP_009228.2:p.Thr1503LysfsTer10
NM_007298.3:c.1333_1334dup	NP_009229.2:p.Thr446LysfsTer10
NM_007299.3:c.1333_1334dup	NP_009230.2:p.Thr446LysfsTer10
NM_007300.3:c.4708_4709dup	NP_009231.2:p.Thr1571LysfsTer10
NR_027676.1:n.4781_4782dup
NM_007294.4:c.4645_4646dup MANE Select	NP_009225.1:p.Thr1550LysfsTer10
NM_007297.4:c.4504_4505dup	NP_009228.2:p.Thr1503LysfsTer10
NM_007299.4:c.1333_1334dup	NP_009230.2:p.Thr446LysfsTer10
NM_007300.4:c.4708_4709dup	NP_009231.2:p.Thr1571LysfsTer10
NR_027676.2:n.4822_4823dup