Canonical Allele Identifier: CA658825015

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548185
• ClinVar RCV Id: RCV000660973
• dbSNP Id: rs1555581948
• MyVariant Identifiers: chr17:g.41226451_41226452insGG (hg19) ; chr17:g.43074434_43074435insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074435_43074436insGG , CM000679.2:g.43074435_43074436insGG	GRCh38
NC_000017.10:g.41226452_41226453insGG , CM000679.1:g.41226452_41226453insGG	GRCh37
NC_000017.9:g.38479978_38479979insGG	NCBI36
NG_005905.2:g.143549_143550insCC , LRG_292:g.143549_143550insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4568_4569insCC	ENSP00000417241.2:p.Gln1524LeufsTer24
ENST00000470026.6:c.4571_4572insCC	ENSP00000419274.2:p.Gln1525LeufsTer24
ENST00000473961.6:c.4445_4446insCC	ENSP00000420201.2:p.Gln1483LeufsTer24
ENST00000476777.6:c.4565_4566insCC	ENSP00000417554.2:p.Gln1523LeufsTer24
ENST00000477152.6:c.4493_4494insCC	ENSP00000419988.2:p.Gln1499LeufsTer24
ENST00000478531.6:c.1259_1260insCC	ENSP00000420412.2:p.Gln421LeufsTer24
ENST00000489037.2:c.4493_4494insCC	ENSP00000420781.2:p.Gln1499LeufsTer24
ENST00000493919.6:c.1121_1122insCC	ENSP00000418819.2:p.Gln375LeufsTer24
ENST00000494123.6:c.4571_4572insCC	ENSP00000419103.2:p.Gln1525LeufsTer24
ENST00000497488.2:c.3683_3684insCC	ENSP00000418986.2:p.Gln1229LeufsTer24
ENST00000618469.2:c.4571_4572insCC	ENSP00000478114.2:p.Gln1525LeufsTer24
ENST00000634433.2:c.4448_4449insCC	ENSP00000489431.2:p.Gln1484LeufsTer24
ENST00000644379.2:c.4637_4638insCC	ENSP00000496570.2:p.Gln1547LeufsTer24
ENST00000644555.2:c.1121_1122insCC	ENSP00000494614.2:p.Gln375LeufsTer24
ENST00000652672.2:c.4430_4431insCC	ENSP00000498906.2:p.Gln1478LeufsTer24
ENST00000484087.6:c.1133_1134insCC	ENSP00000419481.2:p.Gln379LeufsTer24
ENST00000700182.1:c.1178_1179insCC	ENSP00000514849.1:p.Gln394LeufsTer24
ENST00000357654.9:c.4571_4572insCC MANE Select	ENSP00000350283.3:p.Gln1525LeufsTer24
ENST00000471181.7:c.4634_4635insCC	ENSP00000418960.2:p.Gln1546LeufsTer24
ENST00000644379.1:c.958_959insCC
ENST00000352993.7:c.1145_1146insCC	ENSP00000312236.5:p.Gln383LeufsTer24
ENST00000357654.7:c.4571_4572insCC	ENSP00000350283.3:p.Gln1525LeufsTer24
ENST00000461221.5:c.*4354_*4355insCC	ENSP00000418548.1:n.*4354_*4355insCC
ENST00000468300.5:c.1259_1260insCC	ENSP00000417148.1:p.Gln421LeufsTer24
ENST00000471181.6:c.4634_4635insCC	ENSP00000418960.2:p.Gln1546LeufsTer24
ENST00000478531.5:c.1259_1260insCC	ENSP00000420412.1:p.Gln421LeufsTer24
ENST00000484087.5:c.884_885insCC	ENSP00000419481.1:p.Gln296LeufsTer24
ENST00000491747.6:c.1259_1260insCC	ENSP00000420705.2:p.Gln421LeufsTer24
ENST00000493795.5:c.4430_4431insCC	ENSP00000418775.1:p.Gln1478LeufsTer24
ENST00000493919.5:c.1121_1122insCC	ENSP00000418819.1:p.Gln375LeufsTer24
ENST00000586385.5:c.5-10484_5-10483insCC	ENSP00000465818.1:n.5-10484_5-10483insCC
ENST00000591534.5:c.44_45insCC	ENSP00000467329.1:p.Gln16LeufsTer24
ENST00000591849.5:c.-98-24245_-98-24244insCC	ENSP00000465347.1:n.-98-24245_-98-24244insCC
NM_007294.3:c.4571_4572insCC , LRG_292t1:c.4571_4572insCC	NP_009225.1:p.Gln1525LeufsTer24
NM_007297.3:c.4430_4431insCC	NP_009228.2:p.Gln1478LeufsTer24
NM_007298.3:c.1259_1260insCC	NP_009229.2:p.Gln421LeufsTer24
NM_007299.3:c.1259_1260insCC	NP_009230.2:p.Gln421LeufsTer24
NM_007300.3:c.4634_4635insCC	NP_009231.2:p.Gln1546LeufsTer24
NR_027676.1:n.4707_4708insCC
NM_007294.4:c.4571_4572insCC MANE Select	NP_009225.1:p.Gln1525LeufsTer24
NM_007297.4:c.4430_4431insCC	NP_009228.2:p.Gln1478LeufsTer24
NM_007299.4:c.1259_1260insCC	NP_009230.2:p.Gln421LeufsTer24
NM_007300.4:c.4634_4635insCC	NP_009231.2:p.Gln1546LeufsTer24
NR_027676.2:n.4748_4749insCC