Canonical Allele Identifier: CA2825002478

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 3226148
• ClinVar RCV Id: RCV004519383

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091595_43091598del , CM000679.2:g.43091595_43091598del	GRCh38
NC_000017.10:g.41243612_41243615del , CM000679.1:g.41243612_41243615del	GRCh37
NC_000017.9:g.38497138_38497141del	NCBI36
NG_005905.2:g.126388_126391del , LRG_292:g.126388_126391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3999_4002del
ENST00000461574.2:c.3935_3938del	ENSP00000417241.2:p.Thr1312ArgfsTer5
ENST00000470026.6:c.3935_3938del	ENSP00000419274.2:p.Thr1312ArgfsTer5
ENST00000473961.6:c.3809_3812del	ENSP00000420201.2:p.Thr1270ArgfsTer5
ENST00000476777.6:c.3932_3935del	ENSP00000417554.2:p.Thr1311ArgfsTer5
ENST00000477152.6:c.3857_3860del	ENSP00000419988.2:p.Thr1286ArgfsTer5
ENST00000478531.6:c.785-564_785-561del	ENSP00000420412.2:n.785-564_785-561del
ENST00000489037.2:c.3857_3860del	ENSP00000420781.2:p.Thr1286ArgfsTer5
ENST00000493919.6:c.647-564_647-561del	ENSP00000418819.2:n.647-564_647-561del
ENST00000494123.6:c.3935_3938del	ENSP00000419103.2:p.Thr1312ArgfsTer5
ENST00000497488.2:c.3047_3050del	ENSP00000418986.2:p.Thr1016ArgfsTer5
ENST00000618469.2:c.3935_3938del	ENSP00000478114.2:p.Thr1312ArgfsTer5
ENST00000634433.2:c.3812_3815del	ENSP00000489431.2:p.Thr1271ArgfsTer5
ENST00000644379.2:c.3935_3938del	ENSP00000496570.2:p.Thr1312ArgfsTer5
ENST00000644555.2:c.647-564_647-561del	ENSP00000494614.2:n.647-564_647-561del
ENST00000652672.2:c.3794_3797del	ENSP00000498906.2:p.Thr1265ArgfsTer5
ENST00000484087.6:c.665-564_665-561del	ENSP00000419481.2:n.665-564_665-561del
ENST00000700182.1:c.707-564_707-561del	ENSP00000514849.1:n.707-564_707-561del
ENST00000357654.9:c.3935_3938del MANE Select	ENSP00000350283.3:p.Thr1312ArgfsTer5
ENST00000471181.7:c.3935_3938del	ENSP00000418960.2:p.Thr1312ArgfsTer5
ENST00000644379.1:c.256_259del
ENST00000352993.7:c.671-564_671-561del	ENSP00000312236.5:n.671-564_671-561del
ENST00000354071.7:c.3935_3938del	ENSP00000326002.7:p.Thr1312ArgfsTer5
ENST00000357654.7:c.3935_3938del	ENSP00000350283.3:p.Thr1312ArgfsTer5
ENST00000461221.5:c.*3718_*3721del	ENSP00000418548.1:n.*3718_*3721del
ENST00000461574.1:c.229_232del
ENST00000468300.5:c.788-564_788-561del	ENSP00000417148.1:n.788-564_788-561del
ENST00000471181.6:c.3935_3938del	ENSP00000418960.2:p.Thr1312ArgfsTer5
ENST00000478531.5:c.785-564_785-561del	ENSP00000420412.1:n.785-564_785-561del
ENST00000484087.5:c.410-564_410-561del	ENSP00000419481.1:n.410-564_410-561del
ENST00000487825.5:c.413-564_413-561del	ENSP00000418212.1:n.413-564_413-561del
ENST00000491747.6:c.788-564_788-561del	ENSP00000420705.2:n.788-564_788-561del
ENST00000493795.5:c.3794_3797del	ENSP00000418775.1:p.Thr1265ArgfsTer5
ENST00000493919.5:c.647-564_647-561del	ENSP00000418819.1:n.647-564_647-561del
ENST00000586385.5:c.5-27645_5-27642del	ENSP00000465818.1:n.5-27645_5-27642del
ENST00000591534.5:c.-43-17075_-43-17072del	ENSP00000467329.1:n.-43-17075_-43-17072del
ENST00000591849.5:c.-99+33675_-99+33678del	ENSP00000465347.1:n.-99+33675_-99+33678del
NM_007294.3:c.3935_3938del , LRG_292t1:c.3935_3938del	NP_009225.1:p.Thr1312ArgfsTer5
NM_007297.3:c.3794_3797del	NP_009228.2:p.Thr1265ArgfsTer5
NM_007298.3:c.788-564_788-561del	NP_009229.2:n.788-564_788-561del
NM_007299.3:c.788-564_788-561del	NP_009230.2:n.788-564_788-561del
NM_007300.3:c.3935_3938del	NP_009231.2:p.Thr1312ArgfsTer5
NR_027676.1:n.4071_4074del
NM_007294.4:c.3935_3938del MANE Select	NP_009225.1:p.Thr1312ArgfsTer5
NM_007297.4:c.3794_3797del	NP_009228.2:p.Thr1265ArgfsTer5
NM_007299.4:c.788-564_788-561del	NP_009230.2:n.788-564_788-561del
NM_007300.4:c.3935_3938del	NP_009231.2:p.Thr1312ArgfsTer5
NR_027676.2:n.4112_4115del