Canonical Allele Identifier: CA290828564

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1287895
• ClinVar RCV Id: RCV001711022
• dbSNP Id: rs71157702
• gnomAD v2: 17-41219907-T-TAA
• gnomAD v3: 17-43067890-T-TAA
• gnomAD v4: 17-43067890-T-TAA
• MyVariant Identifiers: chr17:g.41219907_41219908insAA (hg19) ; chr17:g.43067890_43067891insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067911_43067912dup , CM000679.2:g.43067911_43067912dup	GRCh38
NC_000017.10:g.41219928_41219929dup , CM000679.1:g.41219928_41219929dup	GRCh37
NC_000017.9:g.38473454_38473455dup	NCBI36
NG_005905.2:g.150092_150093dup , LRG_292:g.150092_150093dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-197_4984-196dup	ENSP00000417241.2:n.4984-197_4984-196dup
ENST00000470026.6:c.4987-197_4987-196dup	ENSP00000419274.2:n.4987-197_4987-196dup
ENST00000473961.6:c.4861-197_4861-196dup	ENSP00000420201.2:n.4861-197_4861-196dup
ENST00000476777.6:c.4981-197_4981-196dup	ENSP00000417554.2:n.4981-197_4981-196dup
ENST00000477152.6:c.4909-197_4909-196dup	ENSP00000419988.2:n.4909-197_4909-196dup
ENST00000478531.6:c.1675-197_1675-196dup	ENSP00000420412.2:n.1675-197_1675-196dup
ENST00000489037.2:c.4909-197_4909-196dup	ENSP00000420781.2:n.4909-197_4909-196dup
ENST00000493919.6:c.1537-197_1537-196dup	ENSP00000418819.2:n.1537-197_1537-196dup
ENST00000494123.6:c.4987-197_4987-196dup	ENSP00000419103.2:n.4987-197_4987-196dup
ENST00000497488.2:c.4099-197_4099-196dup	ENSP00000418986.2:n.4099-197_4099-196dup
ENST00000618469.2:c.4987-197_4987-196dup	ENSP00000478114.2:n.4987-197_4987-196dup
ENST00000634433.2:c.4864-197_4864-196dup	ENSP00000489431.2:n.4864-197_4864-196dup
ENST00000644379.2:c.5053-197_5053-196dup	ENSP00000496570.2:n.5053-197_5053-196dup
ENST00000644555.2:c.1537-197_1537-196dup	ENSP00000494614.2:n.1537-197_1537-196dup
ENST00000652672.2:c.4846-197_4846-196dup	ENSP00000498906.2:n.4846-197_4846-196dup
ENST00000484087.6:c.1549-197_1549-196dup	ENSP00000419481.2:n.1549-197_1549-196dup
ENST00000357654.9:c.4987-197_4987-196dup MANE Select	ENSP00000350283.3:n.4987-197_4987-196dup
ENST00000471181.7:c.5050-197_5050-196dup	ENSP00000418960.2:n.5050-197_5050-196dup
ENST00000644379.1:c.1374-197_1374-196dup
ENST00000352993.7:c.1561-197_1561-196dup	ENSP00000312236.5:n.1561-197_1561-196dup
ENST00000357654.7:c.4987-197_4987-196dup	ENSP00000350283.3:n.4987-197_4987-196dup
ENST00000461221.5:c.*4770-197_*4770-196dup	ENSP00000418548.1:n.*4770-197_*4770-196dup
ENST00000468300.5:c.1675-197_1675-196dup	ENSP00000417148.1:n.1675-197_1675-196dup
ENST00000471181.6:c.5050-197_5050-196dup	ENSP00000418960.2:n.5050-197_5050-196dup
ENST00000472490.1:n.140-197_140-196dup
ENST00000478531.5:c.1675-197_1675-196dup	ENSP00000420412.1:n.1675-197_1675-196dup
ENST00000484087.5:c.1300-197_1300-196dup	ENSP00000419481.1:n.1300-197_1300-196dup
ENST00000491747.6:c.1675-197_1675-196dup	ENSP00000420705.2:n.1675-197_1675-196dup
ENST00000493795.5:c.4846-197_4846-196dup	ENSP00000418775.1:n.4846-197_4846-196dup
ENST00000493919.5:c.1537-197_1537-196dup	ENSP00000418819.1:n.1537-197_1537-196dup
ENST00000586385.5:c.5-3941_5-3940dup	ENSP00000465818.1:n.5-3941_5-3940dup
ENST00000591534.5:c.460-197_460-196dup	ENSP00000467329.1:n.460-197_460-196dup
ENST00000591849.5:c.-98-17702_-98-17701dup	ENSP00000465347.1:n.-98-17702_-98-17701dup
NM_007294.3:c.4987-197_4987-196dup , LRG_292t1:c.4987-197_4987-196dup	NP_009225.1:n.4987-197_4987-196dup
NM_007297.3:c.4846-197_4846-196dup	NP_009228.2:n.4846-197_4846-196dup
NM_007298.3:c.1675-197_1675-196dup	NP_009229.2:n.1675-197_1675-196dup
NM_007299.3:c.1675-197_1675-196dup	NP_009230.2:n.1675-197_1675-196dup
NM_007300.3:c.5050-197_5050-196dup	NP_009231.2:n.5050-197_5050-196dup
NR_027676.1:n.5123-197_5123-196dup
NM_007294.4:c.4987-197_4987-196dup MANE Select	NP_009225.1:n.4987-197_4987-196dup
NM_007297.4:c.4846-197_4846-196dup	NP_009228.2:n.4846-197_4846-196dup
NM_007299.4:c.1675-197_1675-196dup	NP_009230.2:n.1675-197_1675-196dup
NM_007300.4:c.5050-197_5050-196dup	NP_009231.2:n.5050-197_5050-196dup
NR_027676.2:n.5164-197_5164-196dup