Canonical Allele Identifier: CA002637
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37568
dbSNP Id: rs80357804

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091015_43091016del , CM000679.2:g.43091015_43091016del GRCh38
NC_000017.10:g.41243032_41243033del , CM000679.1:g.41243032_41243033del GRCh37
NC_000017.9:g.38496558_38496559del NCBI36
NG_005905.2:g.126971_126972del , LRG_292:g.126971_126972del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4116_4117del ENSP00000417241.2:p.Cys1372Ter
ENST00000470026.6:c.4116_4117del ENSP00000419274.2:p.Cys1372Ter
ENST00000473961.6:c.3990_3991del ENSP00000420201.2:p.Cys1330Ter
ENST00000476777.6:c.4113_4114del ENSP00000417554.2:p.Cys1371Ter
ENST00000477152.6:c.4038_4039del ENSP00000419988.2:p.Cys1346Ter
ENST00000478531.6:c.804_805del ENSP00000420412.2:p.Cys268Ter
ENST00000489037.2:c.4038_4039del ENSP00000420781.2:p.Cys1346Ter
ENST00000493919.6:c.666_667del ENSP00000418819.2:p.Cys222Ter
ENST00000494123.6:c.4116_4117del ENSP00000419103.2:p.Cys1372Ter
ENST00000497488.2:c.3228_3229del ENSP00000418986.2:p.Cys1076Ter
ENST00000618469.2:c.4116_4117del ENSP00000478114.2:p.Cys1372Ter
ENST00000634433.2:c.3993_3994del ENSP00000489431.2:p.Cys1331Ter
ENST00000644379.2:c.4116_4117del ENSP00000496570.2:p.Cys1372Ter
ENST00000644555.2:c.666_667del ENSP00000494614.2:p.Cys222Ter
ENST00000652672.2:c.3975_3976del ENSP00000498906.2:p.Cys1325Ter
ENST00000484087.6:c.684_685del ENSP00000419481.2:p.Cys228Ter
ENST00000700182.1:c.726_727del ENSP00000514849.1:p.Cys242Ter
ENST00000357654.9:c.4116_4117del MANE Select ENSP00000350283.3:p.Cys1372Ter
ENST00000471181.7:c.4116_4117del ENSP00000418960.2:p.Cys1372Ter
ENST00000644379.1:c.437_438del
ENST00000352993.7:c.690_691del ENSP00000312236.5:p.Cys230Ter
ENST00000357654.7:c.4116_4117del ENSP00000350283.3:p.Cys1372Ter
ENST00000461221.5:c.*3899_*3900del ENSP00000418548.1:n.*3899_*3900del
ENST00000461574.1:c.410_411del
ENST00000468300.5:c.807_808del ENSP00000417148.1:p.Cys269Ter
ENST00000471181.6:c.4116_4117del ENSP00000418960.2:p.Cys1372Ter
ENST00000478531.5:c.804_805del ENSP00000420412.1:p.Cys268Ter
ENST00000484087.5:c.429_430del ENSP00000419481.1:p.Cys143Ter
ENST00000487825.5:c.432_433del ENSP00000418212.1:p.Cys144Ter
ENST00000491747.6:c.807_808del ENSP00000420705.2:p.Cys269Ter
ENST00000493795.5:c.3975_3976del ENSP00000418775.1:p.Cys1325Ter
ENST00000493919.5:c.666_667del ENSP00000418819.1:p.Cys222Ter
ENST00000586385.5:c.5-27062_5-27061del ENSP00000465818.1:n.5-27062_5-27061del
ENST00000591534.5:c.-43-16492_-43-16491del ENSP00000467329.1:n.-43-16492_-43-16491de...
ENST00000591849.5:c.-99+34258_-99+34259del ENSP00000465347.1:n.-99+34258_-99+34259de...
NM_007294.3:c.4116_4117del , LRG_292t1:c.4116_4117del NP_009225.1:p.Cys1372Ter
NM_007297.3:c.3975_3976del NP_009228.2:p.Cys1325Ter
NM_007298.3:c.807_808del NP_009229.2:p.Cys269Ter
NM_007299.3:c.807_808del NP_009230.2:p.Cys269Ter
NM_007300.3:c.4116_4117del NP_009231.2:p.Cys1372Ter
NR_027676.1:n.4252_4253del
NM_007294.4:c.4116_4117del MANE Select NP_009225.1:p.Cys1372Ter
NM_007297.4:c.3975_3976del NP_009228.2:p.Cys1325Ter
NM_007299.4:c.807_808del NP_009230.2:p.Cys269Ter
NM_007300.4:c.4116_4117del NP_009231.2:p.Cys1372Ter
NR_027676.2:n.4293_4294del