Canonical Allele Identifier: CA915950097

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 642924
• ClinVar RCV Id: RCV000796479
• dbSNP Id: rs1597860714

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091654_43091655del , CM000679.2:g.43091654_43091655del	GRCh38
NC_000017.10:g.41243671_41243672del , CM000679.1:g.41243671_41243672del	GRCh37
NC_000017.9:g.38497197_38497198del	NCBI36
NG_005905.2:g.126329_126330del , LRG_292:g.126329_126330del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3940_3941del
ENST00000461574.2:c.3876_3877del	ENSP00000417241.2:p.Ala1293Ter
ENST00000470026.6:c.3876_3877del	ENSP00000419274.2:p.Ala1293Ter
ENST00000473961.6:c.3750_3751del	ENSP00000420201.2:p.Ala1251Ter
ENST00000476777.6:c.3873_3874del	ENSP00000417554.2:p.Ala1292Ter
ENST00000477152.6:c.3798_3799del	ENSP00000419988.2:p.Ala1267Ter
ENST00000478531.6:c.785-623_785-622del	ENSP00000420412.2:n.785-623_785-622del
ENST00000489037.2:c.3798_3799del	ENSP00000420781.2:p.Ala1267Ter
ENST00000493919.6:c.647-623_647-622del	ENSP00000418819.2:n.647-623_647-622del
ENST00000494123.6:c.3876_3877del	ENSP00000419103.2:p.Ala1293Ter
ENST00000497488.2:c.2988_2989del	ENSP00000418986.2:p.Ala997Ter
ENST00000618469.2:c.3876_3877del	ENSP00000478114.2:p.Ala1293Ter
ENST00000634433.2:c.3753_3754del	ENSP00000489431.2:p.Ala1252Ter
ENST00000644379.2:c.3876_3877del	ENSP00000496570.2:p.Ala1293Ter
ENST00000644555.2:c.647-623_647-622del	ENSP00000494614.2:n.647-623_647-622del
ENST00000652672.2:c.3735_3736del	ENSP00000498906.2:p.Ala1246Ter
ENST00000484087.6:c.665-623_665-622del	ENSP00000419481.2:n.665-623_665-622del
ENST00000700182.1:c.707-623_707-622del	ENSP00000514849.1:n.707-623_707-622del
ENST00000357654.9:c.3876_3877del MANE Select	ENSP00000350283.3:p.Ala1293Ter
ENST00000471181.7:c.3876_3877del	ENSP00000418960.2:p.Ala1293Ter
ENST00000644379.1:c.197_198del
ENST00000352993.7:c.671-623_671-622del	ENSP00000312236.5:n.671-623_671-622del
ENST00000354071.7:c.3876_3877del	ENSP00000326002.7:p.Ala1293Ter
ENST00000357654.7:c.3876_3877del	ENSP00000350283.3:p.Ala1293Ter
ENST00000461221.5:c.*3659_*3660del	ENSP00000418548.1:n.*3659_*3660del
ENST00000461574.1:c.170_171del
ENST00000468300.5:c.788-623_788-622del	ENSP00000417148.1:n.788-623_788-622del
ENST00000471181.6:c.3876_3877del	ENSP00000418960.2:p.Ala1293Ter
ENST00000478531.5:c.785-623_785-622del	ENSP00000420412.1:n.785-623_785-622del
ENST00000484087.5:c.410-623_410-622del	ENSP00000419481.1:n.410-623_410-622del
ENST00000487825.5:c.413-623_413-622del	ENSP00000418212.1:n.413-623_413-622del
ENST00000491747.6:c.788-623_788-622del	ENSP00000420705.2:n.788-623_788-622del
ENST00000493795.5:c.3735_3736del	ENSP00000418775.1:p.Ala1246Ter
ENST00000493919.5:c.647-623_647-622del	ENSP00000418819.1:n.647-623_647-622del
ENST00000586385.5:c.5-27704_5-27703del	ENSP00000465818.1:n.5-27704_5-27703del
ENST00000591534.5:c.-43-17134_-43-17133del	ENSP00000467329.1:n.-43-17134_-43-17133de...
ENST00000591849.5:c.-99+33616_-99+33617del	ENSP00000465347.1:n.-99+33616_-99+33617de...
NM_007294.3:c.3876_3877del , LRG_292t1:c.3876_3877del	NP_009225.1:p.Ala1293Ter
NM_007297.3:c.3735_3736del	NP_009228.2:p.Ala1246Ter
NM_007298.3:c.788-623_788-622del	NP_009229.2:n.788-623_788-622del
NM_007299.3:c.788-623_788-622del	NP_009230.2:n.788-623_788-622del
NM_007300.3:c.3876_3877del	NP_009231.2:p.Ala1293Ter
NR_027676.1:n.4012_4013del
NM_007294.4:c.3876_3877del MANE Select	NP_009225.1:p.Ala1293Ter
NM_007297.4:c.3735_3736del	NP_009228.2:p.Ala1246Ter
NM_007299.4:c.788-623_788-622del	NP_009230.2:n.788-623_788-622del
NM_007300.4:c.3876_3877del	NP_009231.2:p.Ala1293Ter
NR_027676.2:n.4053_4054del