Canonical Allele Identifier: CA003619
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs273902770

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045814_43045815del , CM000679.2:g.43045814_43045815del GRCh38
NC_000017.10:g.41197831_41197832del , CM000679.1:g.41197831_41197832del GRCh37
NC_000017.9:g.38451357_38451358del NCBI36
NG_005905.2:g.172172_172173del , LRG_292:g.172172_172173del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5465-10_5465-9del ENSP00000417241.2:n.5465-10_5465-9del
ENST00000470026.6:c.5468-10_5468-9del ENSP00000419274.2:n.5468-10_5468-9del
ENST00000473961.6:c.5342-10_5342-9del ENSP00000420201.2:n.5342-10_5342-9del
ENST00000476777.6:c.5462-10_5462-9del ENSP00000417554.2:n.5462-10_5462-9del
ENST00000477152.6:c.5390-10_5390-9del ENSP00000419988.2:n.5390-10_5390-9del
ENST00000478531.6:c.2156-10_2156-9del ENSP00000420412.2:n.2156-10_2156-9del
ENST00000489037.2:c.5390-10_5390-9del ENSP00000420781.2:n.5390-10_5390-9del
ENST00000493919.6:c.2018-10_2018-9del ENSP00000418819.2:n.2018-10_2018-9del
ENST00000494123.6:c.5468-10_5468-9del ENSP00000419103.2:n.5468-10_5468-9del
ENST00000497488.2:c.4580-10_4580-9del ENSP00000418986.2:n.4580-10_4580-9del
ENST00000618469.2:c.5468-10_5468-9del ENSP00000478114.2:n.5468-10_5468-9del
ENST00000634433.2:c.5345-10_5345-9del ENSP00000489431.2:n.5345-10_5345-9del
ENST00000644379.2:c.5534-10_5534-9del ENSP00000496570.2:n.5534-10_5534-9del
ENST00000644555.2:c.2018-10_2018-9del ENSP00000494614.2:n.2018-10_2018-9del
ENST00000652672.2:c.5327-10_5327-9del ENSP00000498906.2:n.5327-10_5327-9del
ENST00000484087.6:c.2030-10_2030-9del ENSP00000419481.2:n.2030-10_2030-9del
ENST00000700081.1:n.1351-10_1351-9del
ENST00000700082.1:n.832-10_832-9del
ENST00000357654.9:c.5468-10_5468-9del MANE Select ENSP00000350283.3:n.5468-10_5468-9del
ENST00000471181.7:c.5531-10_5531-9del ENSP00000418960.2:n.5531-10_5531-9del
ENST00000644379.1:c.1855-10_1855-9del
ENST00000352993.7:c.2042-10_2042-9del ENSP00000312236.5:n.2042-10_2042-9del
ENST00000357654.7:c.5468-10_5468-9del ENSP00000350283.3:n.5468-10_5468-9del
ENST00000461221.5:c.*5251-10_*5251-9del ENSP00000418548.1:n.*5251-10_*5251-9del
ENST00000468300.5:c.2082-10_2082-9del ENSP00000417148.1:n.2082-10_2082-9del
ENST00000471181.6:c.5531-10_5531-9del ENSP00000418960.2:n.5531-10_5531-9del
ENST00000491747.6:c.2156-10_2156-9del ENSP00000420705.2:n.2156-10_2156-9del
ENST00000493795.5:c.5327-10_5327-9del ENSP00000418775.1:n.5327-10_5327-9del
ENST00000586385.5:c.398-10_398-9del ENSP00000465818.1:n.398-10_398-9del
ENST00000591534.5:c.941-10_941-9del ENSP00000467329.1:n.941-10_941-9del
ENST00000591849.5:c.167-10_167-9del ENSP00000465347.1:n.167-10_167-9del
NM_007294.3:c.5468-10_5468-9del , LRG_292t1:c.5468-10_5468-9del NP_009225.1:n.5468-10_5468-9del
NM_007297.3:c.5327-10_5327-9del NP_009228.2:n.5327-10_5327-9del
NM_007298.3:c.2156-10_2156-9del NP_009229.2:n.2156-10_2156-9del
NM_007299.3:c.2082-10_2082-9del NP_009230.2:n.2082-10_2082-9del
NM_007300.3:c.5531-10_5531-9del NP_009231.2:n.5531-10_5531-9del
NR_027676.1:n.5604-10_5604-9del
NM_007294.4:c.5468-10_5468-9del MANE Select NP_009225.1:n.5468-10_5468-9del
NM_007297.4:c.5327-10_5327-9del NP_009228.2:n.5327-10_5327-9del
NM_007299.4:c.2082-10_2082-9del NP_009230.2:n.2082-10_2082-9del
NM_007300.4:c.5531-10_5531-9del NP_009231.2:n.5531-10_5531-9del
NR_027676.2:n.5645-10_5645-9del