Canonical Allele Identifier: CA645373205

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 431212
• ClinVar RCV Id: RCV000496689 ; RCV000661012
• dbSNP Id: rs1135401845
• MyVariant Identifiers: chr17:g.41246156_41246157insC (hg19) ; chr17:g.43094139_43094140insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094139_43094140insC , CM000679.2:g.43094139_43094140insC	GRCh38
NC_000017.10:g.41246156_41246157insC , CM000679.1:g.41246156_41246157insC	GRCh37
NC_000017.9:g.38499682_38499683insC	NCBI36
NG_005905.2:g.123844_123845insG , LRG_292:g.123844_123845insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1455_1456insG
ENST00000461574.2:c.1391_1392insG	ENSP00000417241.2:p.Tyr465LeufsTer15
ENST00000470026.6:c.1391_1392insG	ENSP00000419274.2:p.Tyr465LeufsTer15
ENST00000473961.6:c.1265_1266insG	ENSP00000420201.2:p.Tyr423LeufsTer15
ENST00000476777.6:c.1388_1389insG	ENSP00000417554.2:p.Tyr464LeufsTer15
ENST00000477152.6:c.1313_1314insG	ENSP00000419988.2:p.Tyr439LeufsTer15
ENST00000478531.6:c.784+604_784+605insG	ENSP00000420412.2:n.784+604_784+605insG
ENST00000489037.2:c.1313_1314insG	ENSP00000420781.2:p.Tyr439LeufsTer15
ENST00000493919.6:c.646+604_646+605insG	ENSP00000418819.2:n.646+604_646+605insG
ENST00000494123.6:c.1391_1392insG	ENSP00000419103.2:p.Tyr465LeufsTer15
ENST00000497488.2:c.503_504insG	ENSP00000418986.2:p.Tyr169LeufsTer15
ENST00000618469.2:c.1391_1392insG	ENSP00000478114.2:p.Tyr465LeufsTer15
ENST00000634433.2:c.1268_1269insG	ENSP00000489431.2:p.Tyr424LeufsTer15
ENST00000644379.2:c.1391_1392insG	ENSP00000496570.2:p.Tyr465LeufsTer15
ENST00000644555.2:c.646+604_646+605insG	ENSP00000494614.2:n.646+604_646+605insG
ENST00000652672.2:c.1250_1251insG	ENSP00000498906.2:p.Tyr418LeufsTer15
ENST00000484087.6:c.664+604_664+605insG	ENSP00000419481.2:n.664+604_664+605insG
ENST00000700182.1:c.706+604_706+605insG	ENSP00000514849.1:n.706+604_706+605insG
ENST00000700183.1:c.*1399_*1400insG	ENSP00000514850.1:n.*1399_*1400insG
ENST00000357654.9:c.1391_1392insG MANE Select	ENSP00000350283.3:p.Tyr465LeufsTer15
ENST00000471181.7:c.1391_1392insG	ENSP00000418960.2:p.Tyr465LeufsTer15
ENST00000652672.1:c.1250_1251insG	ENSP00000498906.1:p.Tyr418LeufsTer15
ENST00000352993.7:c.670+1706_670+1707insG	ENSP00000312236.5:n.670+1706_670+1707insG
ENST00000354071.7:c.1391_1392insG	ENSP00000326002.7:p.Tyr465LeufsTer15
ENST00000357654.7:c.1391_1392insG	ENSP00000350283.3:p.Tyr465LeufsTer15
ENST00000412061.3:c.742_743insG
ENST00000461221.5:c.*1174_*1175insG	ENSP00000418548.1:n.*1174_*1175insG
ENST00000468300.5:c.787+604_787+605insG	ENSP00000417148.1:n.787+604_787+605insG
ENST00000470026.5:c.1391_1392insG	ENSP00000419274.1:p.Tyr465LeufsTer15
ENST00000471181.6:c.1391_1392insG	ENSP00000418960.2:p.Tyr465LeufsTer15
ENST00000477152.5:c.1313_1314insG	ENSP00000419988.1:p.Tyr439LeufsTer15
ENST00000478531.5:c.784+604_784+605insG	ENSP00000420412.1:n.784+604_784+605insG
ENST00000484087.5:c.409+604_409+605insG	ENSP00000419481.1:n.409+604_409+605insG
ENST00000487825.5:c.412+604_412+605insG	ENSP00000418212.1:n.412+604_412+605insG
ENST00000491747.6:c.787+604_787+605insG	ENSP00000420705.2:n.787+604_787+605insG
ENST00000492859.5:c.*1327_*1328insG	ENSP00000420253.1:n.*1327_*1328insG
ENST00000493795.5:c.1250_1251insG	ENSP00000418775.1:p.Tyr418LeufsTer15
ENST00000493919.5:c.646+604_646+605insG	ENSP00000418819.1:n.646+604_646+605insG
ENST00000494123.5:c.1391_1392insG	ENSP00000419103.1:p.Tyr465LeufsTer?
ENST00000497488.1:c.503_504insG	ENSP00000418986.1:p.Tyr169LeufsTer?
ENST00000586385.5:c.5-30189_5-30188insG	ENSP00000465818.1:n.5-30189_5-30188insG
ENST00000591534.5:c.-43-19619_-43-19618insG	ENSP00000467329.1:n.-43-19619_-43-19618insG
ENST00000591849.5:c.-99+31131_-99+31132insG	ENSP00000465347.1:n.-99+31131_-99+31132insG
ENST00000634433.1:c.1268_1269insG	ENSP00000489431.1:p.Tyr424LeufsTer15
NM_007294.3:c.1391_1392insG , LRG_292t1:c.1391_1392insG	NP_009225.1:p.Tyr465LeufsTer15
NM_007297.3:c.1250_1251insG	NP_009228.2:p.Tyr418LeufsTer15
NM_007298.3:c.787+604_787+605insG	NP_009229.2:n.787+604_787+605insG
NM_007299.3:c.787+604_787+605insG	NP_009230.2:n.787+604_787+605insG
NM_007300.3:c.1391_1392insG	NP_009231.2:p.Tyr465LeufsTer15
NR_027676.1:n.1527_1528insG
NM_007294.4:c.1391_1392insG MANE Select	NP_009225.1:p.Tyr465LeufsTer15
NM_007297.4:c.1250_1251insG	NP_009228.2:p.Tyr418LeufsTer15
NM_007299.4:c.787+604_787+605insG	NP_009230.2:n.787+604_787+605insG
NM_007300.4:c.1391_1392insG	NP_009231.2:p.Tyr465LeufsTer15
NR_027676.2:n.1568_1569insG