Canonical Allele Identifier: CA10585919
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 252397
dbSNP Id: rs879255294

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094816del , CM000679.2:g.43094816del GRCh38
NC_000017.10:g.41246833del , CM000679.1:g.41246833del GRCh37
NC_000017.9:g.38500359del NCBI36
NG_005905.2:g.123168del , LRG_292:g.123168del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.779del
ENST00000461574.2:c.715del ENSP00000417241.2:p.His239IlefsTer8
ENST00000470026.6:c.715del ENSP00000419274.2:p.His239IlefsTer8
ENST00000473961.6:c.589del ENSP00000420201.2:p.His197IlefsTer8
ENST00000476777.6:c.712del ENSP00000417554.2:p.His238IlefsTer8
ENST00000477152.6:c.637del ENSP00000419988.2:p.His213IlefsTer8
ENST00000478531.6:c.712del ENSP00000420412.2:p.His238IlefsTer8
ENST00000489037.2:c.637del ENSP00000420781.2:p.His213IlefsTer8
ENST00000493919.6:c.574del ENSP00000418819.2:p.His192IlefsTer8
ENST00000494123.6:c.715del ENSP00000419103.2:p.His239IlefsTer8
ENST00000497488.2:c.-174del ENSP00000418986.2:n.-174del
ENST00000618469.2:c.715del ENSP00000478114.2:p.His239IlefsTer8
ENST00000634433.2:c.592del ENSP00000489431.2:p.His198IlefsTer8
ENST00000644379.2:c.715del ENSP00000496570.2:p.His239IlefsTer8
ENST00000644555.2:c.574del ENSP00000494614.2:p.His192IlefsTer8
ENST00000652672.2:c.574del ENSP00000498906.2:p.His192IlefsTer8
ENST00000484087.6:c.592del ENSP00000419481.2:p.His198IlefsTer8
ENST00000700182.1:c.634del ENSP00000514849.1:p.His212IlefsTer8
ENST00000700183.1:c.*723del ENSP00000514850.1:n.*723del
ENST00000357654.9:c.715del MANE Select ENSP00000350283.3:p.His239IlefsTer8
ENST00000471181.7:c.715del ENSP00000418960.2:p.His239IlefsTer8
ENST00000642945.1:c.*589del ENSP00000495897.1:n.*589del
ENST00000652672.1:c.574del ENSP00000498906.1:p.His192IlefsTer8
ENST00000352993.7:c.670+1030del ENSP00000312236.5:n.670+1030del
ENST00000354071.7:c.715del ENSP00000326002.7:p.His239IlefsTer8
ENST00000357654.7:c.715del ENSP00000350283.3:p.His239IlefsTer8
ENST00000412061.3:c.66del
ENST00000461221.5:c.*498del ENSP00000418548.1:n.*498del
ENST00000468300.5:c.715del ENSP00000417148.1:p.His239IlefsTer8
ENST00000470026.5:c.715del ENSP00000419274.1:p.His239IlefsTer8
ENST00000471181.6:c.715del ENSP00000418960.2:p.His239IlefsTer8
ENST00000473961.5:c.312del
ENST00000477152.5:c.637del ENSP00000419988.1:p.His213IlefsTer8
ENST00000478531.5:c.712del ENSP00000420412.1:p.His238IlefsTer8
ENST00000484087.5:c.337del ENSP00000419481.1:p.His113IlefsTer8
ENST00000487825.5:c.340del ENSP00000418212.1:p.His114IlefsTer8
ENST00000491747.6:c.715del ENSP00000420705.2:p.His239IlefsTer8
ENST00000492859.5:c.*651del ENSP00000420253.1:n.*651del
ENST00000493795.5:c.574del ENSP00000418775.1:p.His192IlefsTer8
ENST00000493919.5:c.574del ENSP00000418819.1:p.His192IlefsTer8
ENST00000494123.5:c.715del ENSP00000419103.1:p.His239IlefsTer8
ENST00000497488.1:c.-174del ENSP00000418986.1:n.-174del
ENST00000586385.5:c.4+30366del ENSP00000465818.1:n.4+30366del
ENST00000591534.5:c.-43-20295del ENSP00000467329.1:n.-43-20295del
ENST00000591849.5:c.-99+30455del ENSP00000465347.1:n.-99+30455del
ENST00000634433.1:c.592del ENSP00000489431.1:p.His198IlefsTer8
NM_007294.3:c.715del , LRG_292t1:c.715del NP_009225.1:p.His239IlefsTer8
NM_007297.3:c.574del NP_009228.2:p.His192IlefsTer8
NM_007298.3:c.715del NP_009229.2:p.His239IlefsTer8
NM_007299.3:c.715del NP_009230.2:p.His239IlefsTer8
NM_007300.3:c.715del NP_009231.2:p.His239IlefsTer8
NR_027676.1:n.851del
NM_007294.4:c.715del MANE Select NP_009225.1:p.His239IlefsTer8
NM_007297.4:c.574del NP_009228.2:p.His192IlefsTer8
NM_007299.4:c.715del NP_009230.2:p.His239IlefsTer8
NM_007300.4:c.715del NP_009231.2:p.His239IlefsTer8
NR_027676.2:n.892del