Canonical Allele Identifier: CA2260777996
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43082464_43082471delinsTGATGGAA , CM000679.2:g.43082464_43082471delinsTGATGGAA GRCh38
NC_000017.10:g.41234481_41234488delinsTGATGGAA , CM000679.1:g.41234481_41234488delinsTGATGGAA GRCh37
NC_000017.9:g.38488007_38488014delinsTGATGGAA NCBI36
NG_005905.2:g.135513_135520delinsTTCCATCA , LRG_292:g.135513_135520delinsTTCCATCA

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4290_4297delinsTTCCATCA ENSP00000417241.2:p.Pro1430=
ENST00000470026.6:c.4290_4297delinsTTCCATCA ENSP00000419274.2:p.Pro1430=
ENST00000473961.6:c.4164_4171delinsTTCCATCA ENSP00000420201.2:p.Pro1388=
ENST00000476777.6:c.4284_4291delinsTTCCATCA ENSP00000417554.2:p.Pro1428=
ENST00000477152.6:c.4212_4219delinsTTCCATCA ENSP00000419988.2:p.Pro1404=
ENST00000478531.6:c.978_985delinsTTCCATCA ENSP00000420412.2:p.Pro326=
ENST00000489037.2:c.4212_4219delinsTTCCATCA ENSP00000420781.2:p.Pro1404=
ENST00000493919.6:c.840_847delinsTTCCATCA ENSP00000418819.2:p.Pro280=
ENST00000494123.6:c.4290_4297delinsTTCCATCA ENSP00000419103.2:p.Pro1430=
ENST00000497488.2:c.3402_3409delinsTTCCATCA ENSP00000418986.2:p.Pro1134=
ENST00000618469.2:c.4290_4297delinsTTCCATCA ENSP00000478114.2:p.Pro1430=
ENST00000634433.2:c.4167_4174delinsTTCCATCA ENSP00000489431.2:p.Pro1389=
ENST00000644379.2:c.4290_4297delinsTTCCATCA ENSP00000496570.2:p.Pro1430=
ENST00000644555.2:c.840_847delinsTTCCATCA ENSP00000494614.2:p.Pro280=
ENST00000652672.2:c.4149_4156delinsTTCCATCA ENSP00000498906.2:p.Pro1383=
ENST00000484087.6:c.855_862delinsTTCCATCA ENSP00000419481.2:p.Pro285=
ENST00000700182.1:c.900_907delinsTTCCATCA ENSP00000514849.1:p.Pro300=
ENST00000357654.9:c.4290_4297delinsTTCCATCA MANE Select ENSP00000350283.3:p.Pro1430=
ENST00000471181.7:c.4290_4297delinsTTCCATCA ENSP00000418960.2:p.Pro1430=
ENST00000644379.1:c.611_618delinsTTCCATCA
ENST00000352993.7:c.864_871delinsTTCCATCA ENSP00000312236.5:p.Pro288=
ENST00000357654.7:c.4290_4297delinsTTCCATCA ENSP00000350283.3:p.Pro1430=
ENST00000461221.5:c.*4073_*4080delinsTTCCATCA ENSP00000418548.1:n.*4073_*4080delinsTTCC...
ENST00000461574.1:c.584_591delinsTTCCATCA
ENST00000468300.5:c.981_988delinsTTCCATCA ENSP00000417148.1:p.Pro327=
ENST00000471181.6:c.4290_4297delinsTTCCATCA ENSP00000418960.2:p.Pro1430=
ENST00000478531.5:c.978_985delinsTTCCATCA ENSP00000420412.1:p.Pro326=
ENST00000484087.5:c.603_610delinsTTCCATCA ENSP00000419481.1:p.Pro201=
ENST00000487825.5:c.606_613delinsTTCCATCA ENSP00000418212.1:p.Pro202=
ENST00000491747.6:c.981_988delinsTTCCATCA ENSP00000420705.2:p.Pro327=
ENST00000493795.5:c.4149_4156delinsTTCCATCA ENSP00000418775.1:p.Pro1383=
ENST00000493919.5:c.840_847delinsTTCCATCA ENSP00000418819.1:p.Pro280=
ENST00000586385.5:c.5-18520_5-18513delinsTTCCATCA ENSP00000465818.1:n.5-18520_5-18513delins...
ENST00000591534.5:c.-43-7950_-43-7943delinsTTCCATCA ENSP00000467329.1:n.-43-7950_-43-7943deli...
ENST00000591849.5:c.-98-32281_-98-32274delinsTTCCATCA ENSP00000465347.1:n.-98-32281_-98-32274de...
ENST00000621897.1:n.184_191delinsTTCCATCA
NM_007294.3:c.4290_4297delinsTTCCATCA , LRG_292t1:c.4290_4297delinsTTCCATCA NP_009225.1:p.Pro1430=
NM_007297.3:c.4149_4156delinsTTCCATCA NP_009228.2:p.Pro1383=
NM_007298.3:c.981_988delinsTTCCATCA NP_009229.2:p.Pro327=
NM_007299.3:c.981_988delinsTTCCATCA NP_009230.2:p.Pro327=
NM_007300.3:c.4290_4297delinsTTCCATCA NP_009231.2:p.Pro1430=
NR_027676.1:n.4426_4433delinsTTCCATCA
NM_007294.4:c.4290_4297delinsTTCCATCA MANE Select NP_009225.1:p.Pro1430=
NM_007297.4:c.4149_4156delinsTTCCATCA NP_009228.2:p.Pro1383=
NM_007299.4:c.981_988delinsTTCCATCA NP_009230.2:p.Pro327=
NM_007300.4:c.4290_4297delinsTTCCATCA NP_009231.2:p.Pro1430=
NR_027676.2:n.4467_4474delinsTTCCATCA