Canonical Allele Identifier: CA16620423
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419633
dbSNP Id: rs1064794004

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43074480_43074483delinsCTCATCTAATGATGGGCA , CM000679.2:g.43074480_43074483delinsCTCATCTAATGATGGGCA GRCh38
NC_000017.10:g.41226497_41226500delinsCTCATCTAATGATGGGCA , CM000679.1:g.41226497_41226500delinsCTCATCTAATGATGGGCA GRCh37
NC_000017.9:g.38480023_38480026delinsCTCATCTAATGATGGGCA NCBI36
NG_005905.2:g.143501_143504delinsTGCCCATCATTAGATGAG , LRG_292:g.143501_143504delinsTGCCCATCATTAGATGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4520_4523delinsTGCCCATCATTAGATGAG ENSP00000417241.2:p.Trp1507LeufsTer6
ENST00000470026.6:c.4523_4526delinsTGCCCATCATTAGATGAG ENSP00000419274.2:p.Trp1508LeufsTer6
ENST00000473961.6:c.4397_4400delinsTGCCCATCATTAGATGAG ENSP00000420201.2:p.Trp1466LeufsTer6
ENST00000476777.6:c.4517_4520delinsTGCCCATCATTAGATGAG ENSP00000417554.2:p.Trp1506LeufsTer6
ENST00000477152.6:c.4445_4448delinsTGCCCATCATTAGATGAG ENSP00000419988.2:p.Trp1482LeufsTer6
ENST00000478531.6:c.1211_1214delinsTGCCCATCATTAGATGAG ENSP00000420412.2:p.Trp404LeufsTer6
ENST00000489037.2:c.4445_4448delinsTGCCCATCATTAGATGAG ENSP00000420781.2:p.Trp1482LeufsTer6
ENST00000493919.6:c.1073_1076delinsTGCCCATCATTAGATGAG ENSP00000418819.2:p.Trp358LeufsTer6
ENST00000494123.6:c.4523_4526delinsTGCCCATCATTAGATGAG ENSP00000419103.2:p.Trp1508LeufsTer6
ENST00000497488.2:c.3635_3638delinsTGCCCATCATTAGATGAG ENSP00000418986.2:p.Trp1212LeufsTer6
ENST00000618469.2:c.4523_4526delinsTGCCCATCATTAGATGAG ENSP00000478114.2:p.Trp1508LeufsTer6
ENST00000634433.2:c.4400_4403delinsTGCCCATCATTAGATGAG ENSP00000489431.2:p.Trp1467LeufsTer6
ENST00000644379.2:c.4589_4592delinsTGCCCATCATTAGATGAG ENSP00000496570.2:p.Trp1530LeufsTer6
ENST00000644555.2:c.1073_1076delinsTGCCCATCATTAGATGAG ENSP00000494614.2:p.Trp358LeufsTer6
ENST00000652672.2:c.4382_4385delinsTGCCCATCATTAGATGAG ENSP00000498906.2:p.Trp1461LeufsTer6
ENST00000484087.6:c.1085_1088delinsTGCCCATCATTAGATGAG ENSP00000419481.2:p.Trp362LeufsTer6
ENST00000700182.1:c.1130_1133delinsTGCCCATCATTAGATGAG ENSP00000514849.1:p.Trp377LeufsTer6
ENST00000357654.9:c.4523_4526delinsTGCCCATCATTAGATGAG MANE Select ENSP00000350283.3:p.Trp1508LeufsTer6
ENST00000471181.7:c.4586_4589delinsTGCCCATCATTAGATGAG ENSP00000418960.2:p.Trp1529LeufsTer6
ENST00000644379.1:c.910_913delinsTGCCCATCATTAGATGAG
ENST00000352993.7:c.1097_1100delinsTGCCCATCATTAGATGAG ENSP00000312236.5:p.Trp366LeufsTer6
ENST00000357654.7:c.4523_4526delinsTGCCCATCATTAGATGAG ENSP00000350283.3:p.Trp1508LeufsTer6
ENST00000461221.5:c.*4306_*4309delinsTGCCCATCATTAGATGAG ENSP00000418548.1:n.*4306_*4309delinsTGCC...
ENST00000468300.5:c.1211_1214delinsTGCCCATCATTAGATGAG ENSP00000417148.1:p.Trp404LeufsTer6
ENST00000471181.6:c.4586_4589delinsTGCCCATCATTAGATGAG ENSP00000418960.2:p.Trp1529LeufsTer6
ENST00000478531.5:c.1211_1214delinsTGCCCATCATTAGATGAG ENSP00000420412.1:p.Trp404LeufsTer6
ENST00000484087.5:c.836_839delinsTGCCCATCATTAGATGAG ENSP00000419481.1:p.Trp279LeufsTer6
ENST00000491747.6:c.1211_1214delinsTGCCCATCATTAGATGAG ENSP00000420705.2:p.Trp404LeufsTer6
ENST00000493795.5:c.4382_4385delinsTGCCCATCATTAGATGAG ENSP00000418775.1:p.Trp1461LeufsTer6
ENST00000493919.5:c.1073_1076delinsTGCCCATCATTAGATGAG ENSP00000418819.1:p.Trp358LeufsTer6
ENST00000586385.5:c.5-10532_5-10529delinsTGCCCATCATTAGATGAG ENSP00000465818.1:n.5-10532_5-10529delins...
ENST00000591534.5:c.-5_-2delinsTGCCCATCATTAGATGAG ENSP00000467329.1:n.-5_-2delinsTGCCCATCAT...
ENST00000591849.5:c.-98-24293_-98-24290delinsTGCCCATCATTAGATGAG ENSP00000465347.1:n.-98-24293_-98-24290de...
NM_007294.3:c.4523_4526delinsTGCCCATCATTAGATGAG , LRG_292t1:c.4523_4526delinsTGCCCATCATTAGATGAG NP_009225.1:p.Trp1508LeufsTer6
NM_007297.3:c.4382_4385delinsTGCCCATCATTAGATGAG NP_009228.2:p.Trp1461LeufsTer6
NM_007298.3:c.1211_1214delinsTGCCCATCATTAGATGAG NP_009229.2:p.Trp404LeufsTer6
NM_007299.3:c.1211_1214delinsTGCCCATCATTAGATGAG NP_009230.2:p.Trp404LeufsTer6
NM_007300.3:c.4586_4589delinsTGCCCATCATTAGATGAG NP_009231.2:p.Trp1529LeufsTer6
NR_027676.1:n.4659_4662delinsTGCCCATCATTAGATGAG
NM_007294.4:c.4523_4526delinsTGCCCATCATTAGATGAG MANE Select NP_009225.1:p.Trp1508LeufsTer6
NM_007297.4:c.4382_4385delinsTGCCCATCATTAGATGAG NP_009228.2:p.Trp1461LeufsTer6
NM_007299.4:c.1211_1214delinsTGCCCATCATTAGATGAG NP_009230.2:p.Trp404LeufsTer6
NM_007300.4:c.4586_4589delinsTGCCCATCATTAGATGAG NP_009231.2:p.Trp1529LeufsTer6
NR_027676.2:n.4700_4703delinsTGCCCATCATTAGATGAG