Canonical Allele Identifier: CA327880

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54920
• ClinVar RCV Id: RCV000257563 ; RCV002460042 ; RCV001232607
• dbSNP Id: rs397509083
• gnomAD v4: 17-43091952-G-GA
• MyVariant Identifiers: chr17:g.41243970dupA (hg19) ; chr17:g.41243969_41243970insA (hg19) ; chr17:g.43091953dupA (hg38) ; chr17:g.43091952_43091953insA (hg38)
• PubMed: PMID:9649133

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091955dup , CM000679.2:g.43091955dup	GRCh38
NC_000017.10:g.41243972dup , CM000679.1:g.41243972dup	GRCh37
NC_000017.9:g.38497498dup	NCBI36
NG_005905.2:g.126031dup , LRG_292:g.126031dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3642dup
ENST00000461574.2:c.3578dup	ENSP00000417241.2:p.Thr1194HisfsTer25
ENST00000470026.6:c.3578dup	ENSP00000419274.2:p.Thr1194HisfsTer25
ENST00000473961.6:c.3452dup	ENSP00000420201.2:p.Thr1152HisfsTer25
ENST00000476777.6:c.3575dup	ENSP00000417554.2:p.Thr1193HisfsTer25
ENST00000477152.6:c.3500dup	ENSP00000419988.2:p.Thr1168HisfsTer25
ENST00000478531.6:c.785-921dup	ENSP00000420412.2:n.785-921dup
ENST00000489037.2:c.3500dup	ENSP00000420781.2:p.Thr1168HisfsTer25
ENST00000493919.6:c.647-921dup	ENSP00000418819.2:n.647-921dup
ENST00000494123.6:c.3578dup	ENSP00000419103.2:p.Thr1194HisfsTer25
ENST00000497488.2:c.2690dup	ENSP00000418986.2:p.Thr898HisfsTer25
ENST00000618469.2:c.3578dup	ENSP00000478114.2:p.Thr1194HisfsTer25
ENST00000634433.2:c.3455dup	ENSP00000489431.2:p.Thr1153HisfsTer25
ENST00000644379.2:c.3578dup	ENSP00000496570.2:p.Thr1194HisfsTer25
ENST00000644555.2:c.647-921dup	ENSP00000494614.2:n.647-921dup
ENST00000652672.2:c.3437dup	ENSP00000498906.2:p.Thr1147HisfsTer25
ENST00000484087.6:c.665-921dup	ENSP00000419481.2:n.665-921dup
ENST00000700182.1:c.707-921dup	ENSP00000514849.1:n.707-921dup
ENST00000357654.9:c.3578dup MANE Select	ENSP00000350283.3:p.Thr1194HisfsTer25
ENST00000471181.7:c.3578dup	ENSP00000418960.2:p.Thr1194HisfsTer25
ENST00000352993.7:c.671-921dup	ENSP00000312236.5:n.671-921dup
ENST00000354071.7:c.3578dup	ENSP00000326002.7:p.Thr1194HisfsTer25
ENST00000357654.7:c.3578dup	ENSP00000350283.3:p.Thr1194HisfsTer25
ENST00000461221.5:c.*3361dup	ENSP00000418548.1:n.*3361dup
ENST00000468300.5:c.788-921dup	ENSP00000417148.1:n.788-921dup
ENST00000471181.6:c.3578dup	ENSP00000418960.2:p.Thr1194HisfsTer25
ENST00000478531.5:c.785-921dup	ENSP00000420412.1:n.785-921dup
ENST00000484087.5:c.410-921dup	ENSP00000419481.1:n.410-921dup
ENST00000487825.5:c.413-921dup	ENSP00000418212.1:n.413-921dup
ENST00000491747.6:c.788-921dup	ENSP00000420705.2:n.788-921dup
ENST00000493795.5:c.3437dup	ENSP00000418775.1:p.Thr1147HisfsTer25
ENST00000493919.5:c.647-921dup	ENSP00000418819.1:n.647-921dup
ENST00000586385.5:c.5-28002dup	ENSP00000465818.1:n.5-28002dup
ENST00000591534.5:c.-43-17432dup	ENSP00000467329.1:n.-43-17432dup
ENST00000591849.5:c.-99+33318dup	ENSP00000465347.1:n.-99+33318dup
NM_007294.3:c.3578dup , LRG_292t1:c.3578dup	NP_009225.1:p.Thr1194HisfsTer25
NM_007297.3:c.3437dup	NP_009228.2:p.Thr1147HisfsTer25
NM_007298.3:c.788-921dup	NP_009229.2:n.788-921dup
NM_007299.3:c.788-921dup	NP_009230.2:n.788-921dup
NM_007300.3:c.3578dup	NP_009231.2:p.Thr1194HisfsTer25
NR_027676.1:n.3714dup
NM_007294.4:c.3578dup MANE Select	NP_009225.1:p.Thr1194HisfsTer25
NM_007297.4:c.3437dup	NP_009228.2:p.Thr1147HisfsTer25
NM_007299.4:c.788-921dup	NP_009230.2:n.788-921dup
NM_007300.4:c.3578dup	NP_009231.2:p.Thr1194HisfsTer25
NR_027676.2:n.3755dup