Canonical Allele Identifier: CA2638063348

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43076364-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076367_43076368del , CM000679.2:g.43076367_43076368del	GRCh38
NC_000017.10:g.41228384_41228385del , CM000679.1:g.41228384_41228385del	GRCh37
NC_000017.9:g.38481910_38481911del	NCBI36
NG_005905.2:g.141618_141619del , LRG_292:g.141618_141619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4481+122_4481+123del	ENSP00000417241.2:n.4481+122_4481+123del
ENST00000470026.6:c.4484+122_4484+123del	ENSP00000419274.2:n.4484+122_4484+123del
ENST00000473961.6:c.4358+122_4358+123del	ENSP00000420201.2:n.4358+122_4358+123del
ENST00000476777.6:c.4478+122_4478+123del	ENSP00000417554.2:n.4478+122_4478+123del
ENST00000477152.6:c.4406+122_4406+123del	ENSP00000419988.2:n.4406+122_4406+123del
ENST00000478531.6:c.1172+122_1172+123del	ENSP00000420412.2:n.1172+122_1172+123del
ENST00000489037.2:c.4406+122_4406+123del	ENSP00000420781.2:n.4406+122_4406+123del
ENST00000493919.6:c.1034+122_1034+123del	ENSP00000418819.2:n.1034+122_1034+123del
ENST00000494123.6:c.4484+122_4484+123del	ENSP00000419103.2:n.4484+122_4484+123del
ENST00000497488.2:c.3596+122_3596+123del	ENSP00000418986.2:n.3596+122_3596+123del
ENST00000618469.2:c.4484+122_4484+123del	ENSP00000478114.2:n.4484+122_4484+123del
ENST00000634433.2:c.4361+122_4361+123del	ENSP00000489431.2:n.4361+122_4361+123del
ENST00000644379.2:c.4550+122_4550+123del	ENSP00000496570.2:n.4550+122_4550+123del
ENST00000644555.2:c.1034+122_1034+123del	ENSP00000494614.2:n.1034+122_1034+123del
ENST00000652672.2:c.4343+122_4343+123del	ENSP00000498906.2:n.4343+122_4343+123del
ENST00000484087.6:c.1046+122_1046+123del	ENSP00000419481.2:n.1046+122_1046+123del
ENST00000700182.1:c.1091+122_1091+123del	ENSP00000514849.1:n.1091+122_1091+123del
ENST00000357654.9:c.4484+122_4484+123del MANE Select	ENSP00000350283.3:n.4484+122_4484+123del
ENST00000471181.7:c.4547+122_4547+123del	ENSP00000418960.2:n.4547+122_4547+123del
ENST00000644379.1:c.871+122_871+123del
ENST00000352993.7:c.1058+122_1058+123del	ENSP00000312236.5:n.1058+122_1058+123del
ENST00000357654.7:c.4484+122_4484+123del	ENSP00000350283.3:n.4484+122_4484+123del
ENST00000461221.5:c.*4267+122_*4267+123del	ENSP00000418548.1:n.*4267+122_*4267+123del
ENST00000468300.5:c.1172+122_1172+123del	ENSP00000417148.1:n.1172+122_1172+123del
ENST00000471181.6:c.4547+122_4547+123del	ENSP00000418960.2:n.4547+122_4547+123del
ENST00000478531.5:c.1172+122_1172+123del	ENSP00000420412.1:n.1172+122_1172+123del
ENST00000484087.5:c.797+122_797+123del	ENSP00000419481.1:n.797+122_797+123del
ENST00000491747.6:c.1172+122_1172+123del	ENSP00000420705.2:n.1172+122_1172+123del
ENST00000493795.5:c.4343+122_4343+123del	ENSP00000418775.1:n.4343+122_4343+123del
ENST00000493919.5:c.1034+122_1034+123del	ENSP00000418819.1:n.1034+122_1034+123del
ENST00000586385.5:c.5-12415_5-12414del	ENSP00000465818.1:n.5-12415_5-12414del
ENST00000591534.5:c.-43-1845_-43-1844del	ENSP00000467329.1:n.-43-1845_-43-1844del
ENST00000591849.5:c.-98-26176_-98-26175del	ENSP00000465347.1:n.-98-26176_-98-26175del
NM_007294.3:c.4484+122_4484+123del , LRG_292t1:c.4484+122_4484+123del	NP_009225.1:n.4484+122_4484+123del
NM_007297.3:c.4343+122_4343+123del	NP_009228.2:n.4343+122_4343+123del
NM_007298.3:c.1172+122_1172+123del	NP_009229.2:n.1172+122_1172+123del
NM_007299.3:c.1172+122_1172+123del	NP_009230.2:n.1172+122_1172+123del
NM_007300.3:c.4547+122_4547+123del	NP_009231.2:n.4547+122_4547+123del
NR_027676.1:n.4620+122_4620+123del
NM_007294.4:c.4484+122_4484+123del MANE Select	NP_009225.1:n.4484+122_4484+123del
NM_007297.4:c.4343+122_4343+123del	NP_009228.2:n.4343+122_4343+123del
NM_007299.4:c.1172+122_1172+123del	NP_009230.2:n.1172+122_1172+123del
NM_007300.4:c.4547+122_4547+123del	NP_009231.2:n.4547+122_4547+123del
NR_027676.2:n.4661+122_4661+123del