Canonical Allele Identifier: CA2580094217

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2028077
• ClinVar RCV Id: RCV002863428

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074336_43074348del , CM000679.2:g.43074336_43074348del	GRCh38
NC_000017.10:g.41226353_41226365del , CM000679.1:g.41226353_41226365del	GRCh37
NC_000017.9:g.38479879_38479891del	NCBI36
NG_005905.2:g.143637_143649del , LRG_292:g.143637_143649del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4656_4668del	ENSP00000417241.2:p.Leu1552PhefsTer2
ENST00000470026.6:c.4659_4671del	ENSP00000419274.2:p.Leu1553PhefsTer2
ENST00000473961.6:c.4533_4545del	ENSP00000420201.2:p.Leu1511PhefsTer2
ENST00000476777.6:c.4653_4665del	ENSP00000417554.2:p.Leu1551PhefsTer2
ENST00000477152.6:c.4581_4593del	ENSP00000419988.2:p.Leu1527PhefsTer2
ENST00000478531.6:c.1347_1359del	ENSP00000420412.2:p.Leu449PhefsTer2
ENST00000489037.2:c.4581_4593del	ENSP00000420781.2:p.Leu1527PhefsTer2
ENST00000493919.6:c.1209_1221del	ENSP00000418819.2:p.Leu403PhefsTer2
ENST00000494123.6:c.4659_4671del	ENSP00000419103.2:p.Leu1553PhefsTer2
ENST00000497488.2:c.3771_3783del	ENSP00000418986.2:p.Leu1257PhefsTer2
ENST00000618469.2:c.4659_4671del	ENSP00000478114.2:p.Leu1553PhefsTer2
ENST00000634433.2:c.4536_4548del	ENSP00000489431.2:p.Leu1512PhefsTer2
ENST00000644379.2:c.4725_4737del	ENSP00000496570.2:p.Leu1575PhefsTer2
ENST00000644555.2:c.1209_1221del	ENSP00000494614.2:p.Leu403PhefsTer2
ENST00000652672.2:c.4518_4530del	ENSP00000498906.2:p.Leu1506PhefsTer2
ENST00000484087.6:c.1221_1233del	ENSP00000419481.2:p.Leu407PhefsTer2
ENST00000700182.1:c.1266_1278del	ENSP00000514849.1:p.Leu422PhefsTer2
ENST00000357654.9:c.4659_4671del MANE Select	ENSP00000350283.3:p.Leu1553PhefsTer2
ENST00000471181.7:c.4722_4734del	ENSP00000418960.2:p.Leu1574PhefsTer2
ENST00000644379.1:c.1046_1058del
ENST00000352993.7:c.1233_1245del	ENSP00000312236.5:p.Leu411PhefsTer2
ENST00000357654.7:c.4659_4671del	ENSP00000350283.3:p.Leu1553PhefsTer2
ENST00000461221.5:c.*4442_*4454del	ENSP00000418548.1:n.*4442_*4454del
ENST00000468300.5:c.1347_1359del	ENSP00000417148.1:p.Leu449PhefsTer2
ENST00000471181.6:c.4722_4734del	ENSP00000418960.2:p.Leu1574PhefsTer2
ENST00000478531.5:c.1347_1359del	ENSP00000420412.1:p.Leu449PhefsTer2
ENST00000484087.5:c.972_984del	ENSP00000419481.1:p.Leu324PhefsTer2
ENST00000491747.6:c.1347_1359del	ENSP00000420705.2:p.Leu449PhefsTer2
ENST00000493795.5:c.4518_4530del	ENSP00000418775.1:p.Leu1506PhefsTer2
ENST00000493919.5:c.1209_1221del	ENSP00000418819.1:p.Leu403PhefsTer2
ENST00000586385.5:c.5-10396_5-10384del	ENSP00000465818.1:n.5-10396_5-10384del
ENST00000591534.5:c.132_144del	ENSP00000467329.1:p.Leu44PhefsTer2
ENST00000591849.5:c.-98-24157_-98-24145del	ENSP00000465347.1:n.-98-24157_-98-24145del
NM_007294.3:c.4659_4671del , LRG_292t1:c.4659_4671del	NP_009225.1:p.Leu1553PhefsTer2
NM_007297.3:c.4518_4530del	NP_009228.2:p.Leu1506PhefsTer2
NM_007298.3:c.1347_1359del	NP_009229.2:p.Leu449PhefsTer2
NM_007299.3:c.1347_1359del	NP_009230.2:p.Leu449PhefsTer2
NM_007300.3:c.4722_4734del	NP_009231.2:p.Leu1574PhefsTer2
NR_027676.1:n.4795_4807del
NM_007294.4:c.4659_4671del MANE Select	NP_009225.1:p.Leu1553PhefsTer2
NM_007297.4:c.4518_4530del	NP_009228.2:p.Leu1506PhefsTer2
NM_007299.4:c.1347_1359del	NP_009230.2:p.Leu449PhefsTer2
NM_007300.4:c.4722_4734del	NP_009231.2:p.Leu1574PhefsTer2
NR_027676.2:n.4836_4848del