Canonical Allele Identifier: CA2638062123

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43067787-T-TGCAGGATTGCTACGTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067788_43067789insCAGGATTGCTACGTAGG , CM000679.2:g.43067788_43067789insCAGGATTGCTACGTAGG	GRCh38
NC_000017.10:g.41219805_41219806insCAGGATTGCTACGTAGG , CM000679.1:g.41219805_41219806insCAGGATTGCTACGTAGG	GRCh37
NC_000017.9:g.38473331_38473332insCAGGATTGCTACGTAGG	NCBI36
NG_005905.2:g.150196_150197insCTACGTAGCAATCCTGC , LRG_292:g.150196_150197insCTACGTAGCAATCCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-93_4984-92insCTACGTAGCAATCCTGC	ENSP00000417241.2:n.4984-93_4984-92insCTACGTAGCAATCCTGC
ENST00000470026.6:c.4987-93_4987-92insCTACGTAGCAATCCTGC	ENSP00000419274.2:n.4987-93_4987-92insCTACGTAGCAATCCTGC
ENST00000473961.6:c.4861-93_4861-92insCTACGTAGCAATCCTGC	ENSP00000420201.2:n.4861-93_4861-92insCTACGTAGCAATCCTGC
ENST00000476777.6:c.4981-93_4981-92insCTACGTAGCAATCCTGC	ENSP00000417554.2:n.4981-93_4981-92insCTACGTAGCAATCCTGC
ENST00000477152.6:c.4909-93_4909-92insCTACGTAGCAATCCTGC	ENSP00000419988.2:n.4909-93_4909-92insCTACGTAGCAATCCTGC
ENST00000478531.6:c.1675-93_1675-92insCTACGTAGCAATCCTGC	ENSP00000420412.2:n.1675-93_1675-92insCTACGTAGCAATCCTGC
ENST00000489037.2:c.4909-93_4909-92insCTACGTAGCAATCCTGC	ENSP00000420781.2:n.4909-93_4909-92insCTACGTAGCAATCCTGC
ENST00000493919.6:c.1537-93_1537-92insCTACGTAGCAATCCTGC	ENSP00000418819.2:n.1537-93_1537-92insCTACGTAGCAATCCTGC
ENST00000494123.6:c.4987-93_4987-92insCTACGTAGCAATCCTGC	ENSP00000419103.2:n.4987-93_4987-92insCTACGTAGCAATCCTGC
ENST00000497488.2:c.4099-93_4099-92insCTACGTAGCAATCCTGC	ENSP00000418986.2:n.4099-93_4099-92insCTACGTAGCAATCCTGC
ENST00000618469.2:c.4987-93_4987-92insCTACGTAGCAATCCTGC	ENSP00000478114.2:n.4987-93_4987-92insCTACGTAGCAATCCTGC
ENST00000634433.2:c.4864-93_4864-92insCTACGTAGCAATCCTGC	ENSP00000489431.2:n.4864-93_4864-92insCTACGTAGCAATCCTGC
ENST00000644379.2:c.5053-93_5053-92insCTACGTAGCAATCCTGC	ENSP00000496570.2:n.5053-93_5053-92insCTACGTAGCAATCCTGC
ENST00000644555.2:c.1537-93_1537-92insCTACGTAGCAATCCTGC	ENSP00000494614.2:n.1537-93_1537-92insCTACGTAGCAATCCTGC
ENST00000652672.2:c.4846-93_4846-92insCTACGTAGCAATCCTGC	ENSP00000498906.2:n.4846-93_4846-92insCTACGTAGCAATCCTGC
ENST00000484087.6:c.1549-93_1549-92insCTACGTAGCAATCCTGC	ENSP00000419481.2:n.1549-93_1549-92insCTACGTAGCAATCCTGC
ENST00000357654.9:c.4987-93_4987-92insCTACGTAGCAATCCTGC MANE Select	ENSP00000350283.3:n.4987-93_4987-92insCTACGTAGCAATCCTGC
ENST00000471181.7:c.5050-93_5050-92insCTACGTAGCAATCCTGC	ENSP00000418960.2:n.5050-93_5050-92insCTACGTAGCAATCCTGC
ENST00000644379.1:c.1374-93_1374-92insCTACGTAGCAATCCTGC
ENST00000352993.7:c.1561-93_1561-92insCTACGTAGCAATCCTGC	ENSP00000312236.5:n.1561-93_1561-92insCTACGTAGCAATCCTGC
ENST00000357654.7:c.4987-93_4987-92insCTACGTAGCAATCCTGC	ENSP00000350283.3:n.4987-93_4987-92insCTACGTAGCAATCCTGC
ENST00000461221.5:c.*4770-93_*4770-92insCTACGTAGCAATCCTGC	ENSP00000418548.1:n.*4770-93_*4770-92insCTACGTAGCAATCCTGC
ENST00000468300.5:c.1675-93_1675-92insCTACGTAGCAATCCTGC	ENSP00000417148.1:n.1675-93_1675-92insCTACGTAGCAATCCTGC
ENST00000471181.6:c.5050-93_5050-92insCTACGTAGCAATCCTGC	ENSP00000418960.2:n.5050-93_5050-92insCTACGTAGCAATCCTGC
ENST00000472490.1:n.140-93_140-92insCTACGTAGCAATCCTGC
ENST00000478531.5:c.1675-93_1675-92insCTACGTAGCAATCCTGC	ENSP00000420412.1:n.1675-93_1675-92insCTACGTAGCAATCCTGC
ENST00000484087.5:c.1300-93_1300-92insCTACGTAGCAATCCTGC	ENSP00000419481.1:n.1300-93_1300-92insCTACGTAGCAATCCTGC
ENST00000491747.6:c.1675-93_1675-92insCTACGTAGCAATCCTGC	ENSP00000420705.2:n.1675-93_1675-92insCTACGTAGCAATCCTGC
ENST00000493795.5:c.4846-93_4846-92insCTACGTAGCAATCCTGC	ENSP00000418775.1:n.4846-93_4846-92insCTACGTAGCAATCCTGC
ENST00000493919.5:c.1537-93_1537-92insCTACGTAGCAATCCTGC	ENSP00000418819.1:n.1537-93_1537-92insCTACGTAGCAATCCTGC
ENST00000586385.5:c.5-3837_5-3836insCTACGTAGCAATCCTGC	ENSP00000465818.1:n.5-3837_5-3836insCTACGTAGCAATCCTGC
ENST00000591534.5:c.460-93_460-92insCTACGTAGCAATCCTGC	ENSP00000467329.1:n.460-93_460-92insCTACGTAGCAATCCTGC
ENST00000591849.5:c.-98-17598_-98-17597insCTACGTAGCAATCCTGC	ENSP00000465347.1:n.-98-17598_-98-17597insCTACGTAGCAATCCTGC
NM_007294.3:c.4987-93_4987-92insCTACGTAGCAATCCTGC , LRG_292t1:c.4987-93_4987-92insCTACGTAGCAATCCTGC	NP_009225.1:n.4987-93_4987-92insCTACGTAGCAATCCTGC
NM_007297.3:c.4846-93_4846-92insCTACGTAGCAATCCTGC	NP_009228.2:n.4846-93_4846-92insCTACGTAGCAATCCTGC
NM_007298.3:c.1675-93_1675-92insCTACGTAGCAATCCTGC	NP_009229.2:n.1675-93_1675-92insCTACGTAGCAATCCTGC
NM_007299.3:c.1675-93_1675-92insCTACGTAGCAATCCTGC	NP_009230.2:n.1675-93_1675-92insCTACGTAGCAATCCTGC
NM_007300.3:c.5050-93_5050-92insCTACGTAGCAATCCTGC	NP_009231.2:n.5050-93_5050-92insCTACGTAGCAATCCTGC
NR_027676.1:n.5123-93_5123-92insCTACGTAGCAATCCTGC
NM_007294.4:c.4987-93_4987-92insCTACGTAGCAATCCTGC MANE Select	NP_009225.1:n.4987-93_4987-92insCTACGTAGCAATCCTGC
NM_007297.4:c.4846-93_4846-92insCTACGTAGCAATCCTGC	NP_009228.2:n.4846-93_4846-92insCTACGTAGCAATCCTGC
NM_007299.4:c.1675-93_1675-92insCTACGTAGCAATCCTGC	NP_009230.2:n.1675-93_1675-92insCTACGTAGCAATCCTGC
NM_007300.4:c.5050-93_5050-92insCTACGTAGCAATCCTGC	NP_009231.2:n.5050-93_5050-92insCTACGTAGCAATCCTGC
NR_027676.2:n.5164-93_5164-92insCTACGTAGCAATCCTGC