Canonical Allele Identifier: CA983873947

Gene: BRCA1

Linked Data

• dbSNP Id: rs1445686894
• gnomAD v3: 17-43067889-G-GGAA
• gnomAD v4: 17-43067889-G-GGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067889_43067890insGAA , CM000679.2:g.43067889_43067890insGAA	GRCh38
NC_000017.10:g.41219906_41219907insGAA , CM000679.1:g.41219906_41219907insGAA	GRCh37
NC_000017.9:g.38473432_38473433insGAA	NCBI36
NG_005905.2:g.150094_150095insTTC , LRG_292:g.150094_150095insTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-195_4984-194insTTC	ENSP00000417241.2:n.4984-195_4984-194insTTC
ENST00000470026.6:c.4987-195_4987-194insTTC	ENSP00000419274.2:n.4987-195_4987-194insTTC
ENST00000473961.6:c.4861-195_4861-194insTTC	ENSP00000420201.2:n.4861-195_4861-194insTTC
ENST00000476777.6:c.4981-195_4981-194insTTC	ENSP00000417554.2:n.4981-195_4981-194insTTC
ENST00000477152.6:c.4909-195_4909-194insTTC	ENSP00000419988.2:n.4909-195_4909-194insTTC
ENST00000478531.6:c.1675-195_1675-194insTTC	ENSP00000420412.2:n.1675-195_1675-194insTTC
ENST00000489037.2:c.4909-195_4909-194insTTC	ENSP00000420781.2:n.4909-195_4909-194insTTC
ENST00000493919.6:c.1537-195_1537-194insTTC	ENSP00000418819.2:n.1537-195_1537-194insTTC
ENST00000494123.6:c.4987-195_4987-194insTTC	ENSP00000419103.2:n.4987-195_4987-194insTTC
ENST00000497488.2:c.4099-195_4099-194insTTC	ENSP00000418986.2:n.4099-195_4099-194insTTC
ENST00000618469.2:c.4987-195_4987-194insTTC	ENSP00000478114.2:n.4987-195_4987-194insTTC
ENST00000634433.2:c.4864-195_4864-194insTTC	ENSP00000489431.2:n.4864-195_4864-194insTTC
ENST00000644379.2:c.5053-195_5053-194insTTC	ENSP00000496570.2:n.5053-195_5053-194insTTC
ENST00000644555.2:c.1537-195_1537-194insTTC	ENSP00000494614.2:n.1537-195_1537-194insTTC
ENST00000652672.2:c.4846-195_4846-194insTTC	ENSP00000498906.2:n.4846-195_4846-194insTTC
ENST00000484087.6:c.1549-195_1549-194insTTC	ENSP00000419481.2:n.1549-195_1549-194insTTC
ENST00000357654.9:c.4987-195_4987-194insTTC MANE Select	ENSP00000350283.3:n.4987-195_4987-194insTTC
ENST00000471181.7:c.5050-195_5050-194insTTC	ENSP00000418960.2:n.5050-195_5050-194insTTC
ENST00000644379.1:c.1374-195_1374-194insTTC
ENST00000352993.7:c.1561-195_1561-194insTTC	ENSP00000312236.5:n.1561-195_1561-194insTTC
ENST00000357654.7:c.4987-195_4987-194insTTC	ENSP00000350283.3:n.4987-195_4987-194insTTC
ENST00000461221.5:c.*4770-195_*4770-194insTTC	ENSP00000418548.1:n.*4770-195_*4770-194insTTC
ENST00000468300.5:c.1675-195_1675-194insTTC	ENSP00000417148.1:n.1675-195_1675-194insTTC
ENST00000471181.6:c.5050-195_5050-194insTTC	ENSP00000418960.2:n.5050-195_5050-194insTTC
ENST00000472490.1:n.140-195_140-194insTTC
ENST00000478531.5:c.1675-195_1675-194insTTC	ENSP00000420412.1:n.1675-195_1675-194insTTC
ENST00000484087.5:c.1300-195_1300-194insTTC	ENSP00000419481.1:n.1300-195_1300-194insTTC
ENST00000491747.6:c.1675-195_1675-194insTTC	ENSP00000420705.2:n.1675-195_1675-194insTTC
ENST00000493795.5:c.4846-195_4846-194insTTC	ENSP00000418775.1:n.4846-195_4846-194insTTC
ENST00000493919.5:c.1537-195_1537-194insTTC	ENSP00000418819.1:n.1537-195_1537-194insTTC
ENST00000586385.5:c.5-3939_5-3938insTTC	ENSP00000465818.1:n.5-3939_5-3938insTTC
ENST00000591534.5:c.460-195_460-194insTTC	ENSP00000467329.1:n.460-195_460-194insTTC
ENST00000591849.5:c.-98-17700_-98-17699insTTC	ENSP00000465347.1:n.-98-17700_-98-17699insTTC
NM_007294.3:c.4987-195_4987-194insTTC , LRG_292t1:c.4987-195_4987-194insTTC	NP_009225.1:n.4987-195_4987-194insTTC
NM_007297.3:c.4846-195_4846-194insTTC	NP_009228.2:n.4846-195_4846-194insTTC
NM_007298.3:c.1675-195_1675-194insTTC	NP_009229.2:n.1675-195_1675-194insTTC
NM_007299.3:c.1675-195_1675-194insTTC	NP_009230.2:n.1675-195_1675-194insTTC
NM_007300.3:c.5050-195_5050-194insTTC	NP_009231.2:n.5050-195_5050-194insTTC
NR_027676.1:n.5123-195_5123-194insTTC
NM_007294.4:c.4987-195_4987-194insTTC MANE Select	NP_009225.1:n.4987-195_4987-194insTTC
NM_007297.4:c.4846-195_4846-194insTTC	NP_009228.2:n.4846-195_4846-194insTTC
NM_007299.4:c.1675-195_1675-194insTTC	NP_009230.2:n.1675-195_1675-194insTTC
NM_007300.4:c.5050-195_5050-194insTTC	NP_009231.2:n.5050-195_5050-194insTTC
NR_027676.2:n.5164-195_5164-194insTTC