Canonical Allele Identifier: CA658798839

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 531451
• ClinVar RCV Id: RCV000637830
• dbSNP Id: rs1555581770

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074313_43074314delinsAG , CM000679.2:g.43074313_43074314delinsAG	GRCh38
NC_000017.10:g.41226330_41226331delinsAG , CM000679.1:g.41226330_41226331delinsAG	GRCh37
NC_000017.9:g.38479856_38479857delinsAG	NCBI36
NG_005905.2:g.143670_143671delinsCT , LRG_292:g.143670_143671delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4672+17_4672+18delinsCT	ENSP00000417241.2:n.4672+17_4672+18delinsCT
ENST00000470026.6:c.4675+17_4675+18delinsCT	ENSP00000419274.2:n.4675+17_4675+18delinsCT
ENST00000473961.6:c.4549+17_4549+18delinsCT	ENSP00000420201.2:n.4549+17_4549+18delinsCT
ENST00000476777.6:c.4669+17_4669+18delinsCT	ENSP00000417554.2:n.4669+17_4669+18delinsCT
ENST00000477152.6:c.4597+17_4597+18delinsCT	ENSP00000419988.2:n.4597+17_4597+18delinsCT
ENST00000478531.6:c.1363+17_1363+18delinsCT	ENSP00000420412.2:n.1363+17_1363+18delinsCT
ENST00000489037.2:c.4597+17_4597+18delinsCT	ENSP00000420781.2:n.4597+17_4597+18delinsCT
ENST00000493919.6:c.1225+17_1225+18delinsCT	ENSP00000418819.2:n.1225+17_1225+18delinsCT
ENST00000494123.6:c.4675+17_4675+18delinsCT	ENSP00000419103.2:n.4675+17_4675+18delinsCT
ENST00000497488.2:c.3787+17_3787+18delinsCT	ENSP00000418986.2:n.3787+17_3787+18delinsCT
ENST00000618469.2:c.4675+17_4675+18delinsCT	ENSP00000478114.2:n.4675+17_4675+18delinsCT
ENST00000634433.2:c.4552+17_4552+18delinsCT	ENSP00000489431.2:n.4552+17_4552+18delinsCT
ENST00000644379.2:c.4741+17_4741+18delinsCT	ENSP00000496570.2:n.4741+17_4741+18delinsCT
ENST00000644555.2:c.1225+17_1225+18delinsCT	ENSP00000494614.2:n.1225+17_1225+18delinsCT
ENST00000652672.2:c.4534+17_4534+18delinsCT	ENSP00000498906.2:n.4534+17_4534+18delinsCT
ENST00000484087.6:c.1237+17_1237+18delinsCT	ENSP00000419481.2:n.1237+17_1237+18delinsCT
ENST00000700182.1:c.1282+17_1282+18delinsCT	ENSP00000514849.1:n.1282+17_1282+18delinsCT
ENST00000357654.9:c.4675+17_4675+18delinsCT MANE Select	ENSP00000350283.3:n.4675+17_4675+18delinsCT
ENST00000471181.7:c.4738+17_4738+18delinsCT	ENSP00000418960.2:n.4738+17_4738+18delinsCT
ENST00000644379.1:c.1062+17_1062+18delinsCT
ENST00000352993.7:c.1249+17_1249+18delinsCT	ENSP00000312236.5:n.1249+17_1249+18delinsCT
ENST00000357654.7:c.4675+17_4675+18delinsCT	ENSP00000350283.3:n.4675+17_4675+18delinsCT
ENST00000461221.5:c.*4458+17_*4458+18delinsCT	ENSP00000418548.1:n.*4458+17_*4458+18delinsCT
ENST00000468300.5:c.1363+17_1363+18delinsCT	ENSP00000417148.1:n.1363+17_1363+18delinsCT
ENST00000471181.6:c.4738+17_4738+18delinsCT	ENSP00000418960.2:n.4738+17_4738+18delinsCT
ENST00000478531.5:c.1363+17_1363+18delinsCT	ENSP00000420412.1:n.1363+17_1363+18delinsCT
ENST00000484087.5:c.988+17_988+18delinsCT	ENSP00000419481.1:n.988+17_988+18delinsCT
ENST00000491747.6:c.1363+17_1363+18delinsCT	ENSP00000420705.2:n.1363+17_1363+18delinsCT
ENST00000493795.5:c.4534+17_4534+18delinsCT	ENSP00000418775.1:n.4534+17_4534+18delinsCT
ENST00000493919.5:c.1225+17_1225+18delinsCT	ENSP00000418819.1:n.1225+17_1225+18delinsCT
ENST00000586385.5:c.5-10363_5-10362delinsCT	ENSP00000465818.1:n.5-10363_5-10362delinsCT
ENST00000591534.5:c.148+17_148+18delinsCT	ENSP00000467329.1:n.148+17_148+18delinsCT
ENST00000591849.5:c.-98-24124_-98-24123delinsCT	ENSP00000465347.1:n.-98-24124_-98-24123delinsCT
NM_007294.3:c.4675+17_4675+18delinsCT , LRG_292t1:c.4675+17_4675+18delinsCT	NP_009225.1:n.4675+17_4675+18delinsCT
NM_007297.3:c.4534+17_4534+18delinsCT	NP_009228.2:n.4534+17_4534+18delinsCT
NM_007298.3:c.1363+17_1363+18delinsCT	NP_009229.2:n.1363+17_1363+18delinsCT
NM_007299.3:c.1363+17_1363+18delinsCT	NP_009230.2:n.1363+17_1363+18delinsCT
NM_007300.3:c.4738+17_4738+18delinsCT	NP_009231.2:n.4738+17_4738+18delinsCT
NR_027676.1:n.4811+17_4811+18delinsCT
NM_007294.4:c.4675+17_4675+18delinsCT MANE Select	NP_009225.1:n.4675+17_4675+18delinsCT
NM_007297.4:c.4534+17_4534+18delinsCT	NP_009228.2:n.4534+17_4534+18delinsCT
NM_007299.4:c.1363+17_1363+18delinsCT	NP_009230.2:n.1363+17_1363+18delinsCT
NM_007300.4:c.4738+17_4738+18delinsCT	NP_009231.2:n.4738+17_4738+18delinsCT
NR_027676.2:n.4852+17_4852+18delinsCT