Canonical Allele Identifier: CA983873358

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43067836-A-ATTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 17-43067836-A-ATTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067855_43067856insTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.2:g.43067855_43067856insTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000017.10:g.41219872_41219873insTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.1:g.41219872_41219873insTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000017.9:g.38473398_38473399insTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_005905.2:g.150147_150148insAAAAAAAAAAAAAAAAAAAAAAAA , LRG_292:g.150147_150148insAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-142_4984-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000417241.2:n.4984-142_4984-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000470026.6:c.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000419274.2:n.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000473961.6:c.4861-142_4861-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000420201.2:n.4861-142_4861-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000476777.6:c.4981-142_4981-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000417554.2:n.4981-142_4981-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000477152.6:c.4909-142_4909-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000419988.2:n.4909-142_4909-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000478531.6:c.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000420412.2:n.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000489037.2:c.4909-142_4909-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000420781.2:n.4909-142_4909-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000493919.6:c.1537-142_1537-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000418819.2:n.1537-142_1537-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000494123.6:c.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000419103.2:n.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000497488.2:c.4099-142_4099-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000418986.2:n.4099-142_4099-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000618469.2:c.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000478114.2:n.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000634433.2:c.4864-142_4864-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000489431.2:n.4864-142_4864-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000644379.2:c.5053-142_5053-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000496570.2:n.5053-142_5053-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000644555.2:c.1537-142_1537-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000494614.2:n.1537-142_1537-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000652672.2:c.4846-142_4846-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000498906.2:n.4846-142_4846-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000484087.6:c.1549-142_1549-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000419481.2:n.1549-142_1549-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000357654.9:c.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000350283.3:n.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000471181.7:c.5050-142_5050-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000418960.2:n.5050-142_5050-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000644379.1:c.1374-142_1374-141insAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000352993.7:c.1561-142_1561-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000312236.5:n.1561-142_1561-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000357654.7:c.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000350283.3:n.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000461221.5:c.*4770-142_*4770-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000418548.1:n.*4770-142_*4770-141insAAAAAAAAAAAAAAAAAAA...
ENST00000468300.5:c.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000417148.1:n.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000471181.6:c.5050-142_5050-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000418960.2:n.5050-142_5050-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000472490.1:n.140-142_140-141insAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000478531.5:c.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000420412.1:n.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000484087.5:c.1300-142_1300-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000419481.1:n.1300-142_1300-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000491747.6:c.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000420705.2:n.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000493795.5:c.4846-142_4846-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000418775.1:n.4846-142_4846-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000493919.5:c.1537-142_1537-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000418819.1:n.1537-142_1537-141insAAAAAAAAAAAAAAAAAAAAA...
ENST00000586385.5:c.5-3886_5-3885insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000465818.1:n.5-3886_5-3885insAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000591534.5:c.460-142_460-141insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000467329.1:n.460-142_460-141insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000591849.5:c.-98-17647_-98-17646insAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000465347.1:n.-98-17647_-98-17646insAAAAAAAAAAAAAAAAAAA...
NM_007294.3:c.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAAAAA , LRG_292t1:c.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAAAAA	NP_009225.1:n.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAAAAA
NM_007297.3:c.4846-142_4846-141insAAAAAAAAAAAAAAAAAAAAAAAA	NP_009228.2:n.4846-142_4846-141insAAAAAAAAAAAAAAAAAAAAAAAA
NM_007298.3:c.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAAAAA	NP_009229.2:n.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAAAAA
NM_007299.3:c.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAAAAA	NP_009230.2:n.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAAAAA
NM_007300.3:c.5050-142_5050-141insAAAAAAAAAAAAAAAAAAAAAAAA	NP_009231.2:n.5050-142_5050-141insAAAAAAAAAAAAAAAAAAAAAAAA
NR_027676.1:n.5123-142_5123-141insAAAAAAAAAAAAAAAAAAAAAAAA
NM_007294.4:c.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_009225.1:n.4987-142_4987-141insAAAAAAAAAAAAAAAAAAAAAAAA
NM_007297.4:c.4846-142_4846-141insAAAAAAAAAAAAAAAAAAAAAAAA	NP_009228.2:n.4846-142_4846-141insAAAAAAAAAAAAAAAAAAAAAAAA
NM_007299.4:c.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAAAAA	NP_009230.2:n.1675-142_1675-141insAAAAAAAAAAAAAAAAAAAAAAAA
NM_007300.4:c.5050-142_5050-141insAAAAAAAAAAAAAAAAAAAAAAAA	NP_009231.2:n.5050-142_5050-141insAAAAAAAAAAAAAAAAAAAAAAAA
NR_027676.2:n.5164-142_5164-141insAAAAAAAAAAAAAAAAAAAAAAAA