Canonical Allele Identifier: CA658684117

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071220_43071226delinsC , CM000679.2:g.43071220_43071226delinsC	GRCh38
NC_000017.10:g.41223237_41223243delinsC , CM000679.1:g.41223237_41223243delinsC	GRCh37
NC_000017.9:g.38476763_38476769delinsC	NCBI36
NG_005905.2:g.146758_146764delinsG , LRG_292:g.146758_146764delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4685_4691delinsG	ENSP00000417241.2:p.Tyr1562Ter
ENST00000470026.6:c.4688_4694delinsG	ENSP00000419274.2:p.Tyr1563Ter
ENST00000473961.6:c.4562_4568delinsG	ENSP00000420201.2:p.Tyr1521Ter
ENST00000476777.6:c.4682_4688delinsG	ENSP00000417554.2:p.Tyr1561Ter
ENST00000477152.6:c.4610_4616delinsG	ENSP00000419988.2:p.Tyr1537Ter
ENST00000478531.6:c.1376_1382delinsG	ENSP00000420412.2:p.Tyr459Ter
ENST00000489037.2:c.4610_4616delinsG	ENSP00000420781.2:p.Tyr1537Ter
ENST00000493919.6:c.1238_1244delinsG	ENSP00000418819.2:p.Tyr413Ter
ENST00000494123.6:c.4688_4694delinsG	ENSP00000419103.2:p.Tyr1563Ter
ENST00000497488.2:c.3800_3806delinsG	ENSP00000418986.2:p.Tyr1267Ter
ENST00000618469.2:c.4688_4694delinsG	ENSP00000478114.2:p.Tyr1563Ter
ENST00000634433.2:c.4565_4571delinsG	ENSP00000489431.2:p.Tyr1522Ter
ENST00000644379.2:c.4754_4760delinsG	ENSP00000496570.2:p.Tyr1585Ter
ENST00000644555.2:c.1238_1244delinsG	ENSP00000494614.2:p.Tyr413Ter
ENST00000652672.2:c.4547_4553delinsG	ENSP00000498906.2:p.Tyr1516Ter
ENST00000484087.6:c.1250_1256delinsG	ENSP00000419481.2:p.Tyr417Ter
ENST00000700182.1:c.1295_1301delinsG	ENSP00000514849.1:p.Tyr432Ter
ENST00000357654.9:c.4688_4694delinsG MANE Select	ENSP00000350283.3:p.Tyr1563Ter
ENST00000471181.7:c.4751_4757delinsG	ENSP00000418960.2:p.Tyr1584Ter
ENST00000644379.1:c.1075_1081delinsG
ENST00000352993.7:c.1262_1268delinsG	ENSP00000312236.5:p.Tyr421Ter
ENST00000357654.7:c.4688_4694delinsG	ENSP00000350283.3:p.Tyr1563Ter
ENST00000461221.5:c.*4471_*4477delinsG	ENSP00000418548.1:n.*4471_*4477delinsG
ENST00000468300.5:c.1376_1382delinsG	ENSP00000417148.1:p.Tyr459Ter
ENST00000471181.6:c.4751_4757delinsG	ENSP00000418960.2:p.Tyr1584Ter
ENST00000478531.5:c.1376_1382delinsG	ENSP00000420412.1:p.Tyr459Ter
ENST00000484087.5:c.1001_1007delinsG	ENSP00000419481.1:p.Tyr334Ter
ENST00000491747.6:c.1376_1382delinsG	ENSP00000420705.2:p.Tyr459Ter
ENST00000493795.5:c.4547_4553delinsG	ENSP00000418775.1:p.Tyr1516Ter
ENST00000493919.5:c.1238_1244delinsG	ENSP00000418819.1:p.Tyr413Ter
ENST00000586385.5:c.5-7275_5-7269delinsG	ENSP00000465818.1:n.5-7275_5-7269delinsG
ENST00000591534.5:c.161_167delinsG	ENSP00000467329.1:p.Tyr54Ter
ENST00000591849.5:c.-98-21036_-98-21030delinsG	ENSP00000465347.1:n.-98-21036_-98-21030delinsG
NM_007294.3:c.4688_4694delinsG , LRG_292t1:c.4688_4694delinsG	NP_009225.1:p.Tyr1563Ter
NM_007297.3:c.4547_4553delinsG	NP_009228.2:p.Tyr1516Ter
NM_007298.3:c.1376_1382delinsG	NP_009229.2:p.Tyr459Ter
NM_007299.3:c.1376_1382delinsG	NP_009230.2:p.Tyr459Ter
NM_007300.3:c.4751_4757delinsG	NP_009231.2:p.Tyr1584Ter
NR_027676.1:n.4824_4830delinsG
NM_007294.4:c.4688_4694delinsG MANE Select	NP_009225.1:p.Tyr1563Ter
NM_007297.4:c.4547_4553delinsG	NP_009228.2:p.Tyr1516Ter
NM_007299.4:c.1376_1382delinsG	NP_009230.2:p.Tyr459Ter
NM_007300.4:c.4751_4757delinsG	NP_009231.2:p.Tyr1584Ter
NR_027676.2:n.4865_4871delinsG