Canonical Allele Identifier: CA2580094263

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1735900
• ClinVar RCV Id: RCV003094430 ; RCV002366352

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091635_43091640del , CM000679.2:g.43091635_43091640del	GRCh38
NC_000017.10:g.41243652_41243657del , CM000679.1:g.41243652_41243657del	GRCh37
NC_000017.9:g.38497178_38497183del	NCBI36
NG_005905.2:g.126344_126349del , LRG_292:g.126344_126349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3955_3960del
ENST00000461574.2:c.3891_3896del	ENSP00000417241.2:p.Ser1298_Gln1299del
ENST00000470026.6:c.3891_3896del	ENSP00000419274.2:p.Ser1298_Gln1299del
ENST00000473961.6:c.3765_3770del	ENSP00000420201.2:p.Ser1256_Gln1257del
ENST00000476777.6:c.3888_3893del	ENSP00000417554.2:p.Ser1297_Gln1298del
ENST00000477152.6:c.3813_3818del	ENSP00000419988.2:p.Ser1272_Gln1273del
ENST00000478531.6:c.785-608_785-603del	ENSP00000420412.2:n.785-608_785-603del
ENST00000489037.2:c.3813_3818del	ENSP00000420781.2:p.Ser1272_Gln1273del
ENST00000493919.6:c.647-608_647-603del	ENSP00000418819.2:n.647-608_647-603del
ENST00000494123.6:c.3891_3896del	ENSP00000419103.2:p.Ser1298_Gln1299del
ENST00000497488.2:c.3003_3008del	ENSP00000418986.2:p.Ser1002_Gln1003del
ENST00000618469.2:c.3891_3896del	ENSP00000478114.2:p.Ser1298_Gln1299del
ENST00000634433.2:c.3768_3773del	ENSP00000489431.2:p.Ser1257_Gln1258del
ENST00000644379.2:c.3891_3896del	ENSP00000496570.2:p.Ser1298_Gln1299del
ENST00000644555.2:c.647-608_647-603del	ENSP00000494614.2:n.647-608_647-603del
ENST00000652672.2:c.3750_3755del	ENSP00000498906.2:p.Ser1251_Gln1252del
ENST00000484087.6:c.665-608_665-603del	ENSP00000419481.2:n.665-608_665-603del
ENST00000700182.1:c.707-608_707-603del	ENSP00000514849.1:n.707-608_707-603del
ENST00000357654.9:c.3891_3896del MANE Select	ENSP00000350283.3:p.Ser1298_Gln1299del
ENST00000471181.7:c.3891_3896del	ENSP00000418960.2:p.Ser1298_Gln1299del
ENST00000644379.1:c.212_217del
ENST00000352993.7:c.671-608_671-603del	ENSP00000312236.5:n.671-608_671-603del
ENST00000354071.7:c.3891_3896del	ENSP00000326002.7:p.Ser1298_Gln1299del
ENST00000357654.7:c.3891_3896del	ENSP00000350283.3:p.Ser1298_Gln1299del
ENST00000461221.5:c.*3674_*3679del	ENSP00000418548.1:n.*3674_*3679del
ENST00000461574.1:c.185_190del
ENST00000468300.5:c.788-608_788-603del	ENSP00000417148.1:n.788-608_788-603del
ENST00000471181.6:c.3891_3896del	ENSP00000418960.2:p.Ser1298_Gln1299del
ENST00000478531.5:c.785-608_785-603del	ENSP00000420412.1:n.785-608_785-603del
ENST00000484087.5:c.410-608_410-603del	ENSP00000419481.1:n.410-608_410-603del
ENST00000487825.5:c.413-608_413-603del	ENSP00000418212.1:n.413-608_413-603del
ENST00000491747.6:c.788-608_788-603del	ENSP00000420705.2:n.788-608_788-603del
ENST00000493795.5:c.3750_3755del	ENSP00000418775.1:p.Ser1251_Gln1252del
ENST00000493919.5:c.647-608_647-603del	ENSP00000418819.1:n.647-608_647-603del
ENST00000586385.5:c.5-27689_5-27684del	ENSP00000465818.1:n.5-27689_5-27684del
ENST00000591534.5:c.-43-17119_-43-17114del	ENSP00000467329.1:n.-43-17119_-43-17114del
ENST00000591849.5:c.-99+33631_-99+33636del	ENSP00000465347.1:n.-99+33631_-99+33636del
NM_007294.3:c.3891_3896del , LRG_292t1:c.3891_3896del	NP_009225.1:p.Ser1298_Gln1299del
NM_007297.3:c.3750_3755del	NP_009228.2:p.Ser1251_Gln1252del
NM_007298.3:c.788-608_788-603del	NP_009229.2:n.788-608_788-603del
NM_007299.3:c.788-608_788-603del	NP_009230.2:n.788-608_788-603del
NM_007300.3:c.3891_3896del	NP_009231.2:p.Ser1298_Gln1299del
NR_027676.1:n.4027_4032del
NM_007294.4:c.3891_3896del MANE Select	NP_009225.1:p.Ser1298_Gln1299del
NM_007297.4:c.3750_3755del	NP_009228.2:p.Ser1251_Gln1252del
NM_007299.4:c.788-608_788-603del	NP_009230.2:n.788-608_788-603del
NM_007300.4:c.3891_3896del	NP_009231.2:p.Ser1298_Gln1299del
NR_027676.2:n.4068_4073del