Canonical Allele Identifier: CA16620428

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 418070
• ClinVar RCV Id: RCV000482105 ; RCV002367622 ; RCV003644986
• dbSNP Id: rs1064793058
• MyVariant Identifiers: chr17:g.41243764_41243766del (hg19) ; chr17:g.43091747_43091749del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091751_43091753del , CM000679.2:g.43091751_43091753del	GRCh38
NC_000017.10:g.41243768_41243770del , CM000679.1:g.41243768_41243770del	GRCh37
NC_000017.9:g.38497294_38497296del	NCBI36
NG_005905.2:g.126235_126237del , LRG_292:g.126235_126237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3846_3848del
ENST00000461574.2:c.3782_3784del	ENSP00000417241.2:p.Leu1261del
ENST00000470026.6:c.3782_3784del	ENSP00000419274.2:p.Leu1261del
ENST00000473961.6:c.3656_3658del	ENSP00000420201.2:p.Leu1219del
ENST00000476777.6:c.3779_3781del	ENSP00000417554.2:p.Leu1260del
ENST00000477152.6:c.3704_3706del	ENSP00000419988.2:p.Leu1235del
ENST00000478531.6:c.785-717_785-715del	ENSP00000420412.2:n.785-717_785-715del
ENST00000489037.2:c.3704_3706del	ENSP00000420781.2:p.Leu1235del
ENST00000493919.6:c.647-717_647-715del	ENSP00000418819.2:n.647-717_647-715del
ENST00000494123.6:c.3782_3784del	ENSP00000419103.2:p.Leu1261del
ENST00000497488.2:c.2894_2896del	ENSP00000418986.2:p.Leu965del
ENST00000618469.2:c.3782_3784del	ENSP00000478114.2:p.Leu1261del
ENST00000634433.2:c.3659_3661del	ENSP00000489431.2:p.Leu1220del
ENST00000644379.2:c.3782_3784del	ENSP00000496570.2:p.Leu1261del
ENST00000644555.2:c.647-717_647-715del	ENSP00000494614.2:n.647-717_647-715del
ENST00000652672.2:c.3641_3643del	ENSP00000498906.2:p.Leu1214del
ENST00000484087.6:c.665-717_665-715del	ENSP00000419481.2:n.665-717_665-715del
ENST00000700182.1:c.707-717_707-715del	ENSP00000514849.1:n.707-717_707-715del
ENST00000357654.9:c.3782_3784del MANE Select	ENSP00000350283.3:p.Leu1261del
ENST00000471181.7:c.3782_3784del	ENSP00000418960.2:p.Leu1261del
ENST00000644379.1:c.103_105del
ENST00000352993.7:c.671-717_671-715del	ENSP00000312236.5:n.671-717_671-715del
ENST00000354071.7:c.3782_3784del	ENSP00000326002.7:p.Leu1261del
ENST00000357654.7:c.3782_3784del	ENSP00000350283.3:p.Leu1261del
ENST00000461221.5:c.*3565_*3567del	ENSP00000418548.1:n.*3565_*3567del
ENST00000461574.1:c.76_78del
ENST00000468300.5:c.788-717_788-715del	ENSP00000417148.1:n.788-717_788-715del
ENST00000471181.6:c.3782_3784del	ENSP00000418960.2:p.Leu1261del
ENST00000478531.5:c.785-717_785-715del	ENSP00000420412.1:n.785-717_785-715del
ENST00000484087.5:c.410-717_410-715del	ENSP00000419481.1:n.410-717_410-715del
ENST00000487825.5:c.413-717_413-715del	ENSP00000418212.1:n.413-717_413-715del
ENST00000491747.6:c.788-717_788-715del	ENSP00000420705.2:n.788-717_788-715del
ENST00000493795.5:c.3641_3643del	ENSP00000418775.1:p.Leu1214del
ENST00000493919.5:c.647-717_647-715del	ENSP00000418819.1:n.647-717_647-715del
ENST00000586385.5:c.5-27798_5-27796del	ENSP00000465818.1:n.5-27798_5-27796del
ENST00000591534.5:c.-43-17228_-43-17226del	ENSP00000467329.1:n.-43-17228_-43-17226del
ENST00000591849.5:c.-99+33522_-99+33524del	ENSP00000465347.1:n.-99+33522_-99+33524del
NM_007294.3:c.3782_3784del , LRG_292t1:c.3782_3784del	NP_009225.1:p.Leu1261del
NM_007297.3:c.3641_3643del	NP_009228.2:p.Leu1214del
NM_007298.3:c.788-717_788-715del	NP_009229.2:n.788-717_788-715del
NM_007299.3:c.788-717_788-715del	NP_009230.2:n.788-717_788-715del
NM_007300.3:c.3782_3784del	NP_009231.2:p.Leu1261del
NR_027676.1:n.3918_3920del
NM_007294.4:c.3782_3784del MANE Select	NP_009225.1:p.Leu1261del
NM_007297.4:c.3641_3643del	NP_009228.2:p.Leu1214del
NM_007299.4:c.788-717_788-715del	NP_009230.2:n.788-717_788-715del
NM_007300.4:c.3782_3784del	NP_009231.2:p.Leu1261del
NR_027676.2:n.3959_3961del