Canonical Allele Identifier: CA2499224400

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1049459
• ClinVar RCV Id: RCV001355599
• dbSNP Id: rs2153986410

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074329_43074522del , CM000679.2:g.43074329_43074522del	GRCh38
NC_000017.10:g.41226346_41226539del , CM000679.1:g.41226346_41226539del	GRCh37
NC_000017.9:g.38479872_38480065del	NCBI36
NG_005905.2:g.143462_143655del , LRG_292:g.143462_143655del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4482-1_4672+2del
ENST00000470026.6:c.4485-1_4675+2del
ENST00000473961.6:c.4359-1_4549+2del
ENST00000476777.6:c.4479-1_4669+2del
ENST00000477152.6:c.4407-1_4597+2del
ENST00000478531.6:c.1173-1_1363+2del
ENST00000489037.2:c.4407-1_4597+2del
ENST00000493919.6:c.1035-1_1225+2del
ENST00000494123.6:c.4485-1_4675+2del
ENST00000497488.2:c.3597-1_3787+2del
ENST00000618469.2:c.4485-1_4675+2del
ENST00000634433.2:c.4362-1_4552+2del
ENST00000644379.2:c.4551-1_4741+2del
ENST00000644555.2:c.1035-1_1225+2del
ENST00000652672.2:c.4344-1_4534+2del
ENST00000484087.6:c.1047-1_1237+2del
ENST00000700182.1:c.1092-1_1282+2del
ENST00000357654.9:c.4485-1_4675+2del
ENST00000471181.7:c.4548-1_4738+2del
ENST00000644379.1:c.872-1_1062+2del
ENST00000352993.7:c.1059-1_1249+2del
ENST00000357654.7:c.4485-1_4675+2del
ENST00000461221.5:c.*4268-1_*4458+2del
ENST00000468300.5:c.1173-1_1363+2del
ENST00000471181.6:c.4548-1_4738+2del
ENST00000478531.5:c.1173-1_1363+2del
ENST00000484087.5:c.798-1_988+2del
ENST00000491747.6:c.1173-1_1363+2del
ENST00000493795.5:c.4344-1_4534+2del
ENST00000493919.5:c.1035-1_1225+2del
ENST00000586385.5:c.5-10571_5-10378del	ENSP00000465818.1:n.5-10571_5-10378del
ENST00000591534.5:c.-43-1_148+2del
ENST00000591849.5:c.-98-24332_-98-24139del	ENSP00000465347.1:n.-98-24332_-98-24139de...
NM_007294.3:c.4485-1_4675+2del , LRG_292t1:c.4485-1_4675+2del
NM_007297.3:c.4344-1_4534+2del
NM_007298.3:c.1173-1_1363+2del
NM_007299.3:c.1173-1_1363+2del
NM_007300.3:c.4548-1_4738+2del
NR_027676.1:n.4621-1_4811+2del
NM_007294.4:c.4485-1_4675+2del
NM_007297.4:c.4344-1_4534+2del
NM_007299.4:c.1173-1_1363+2del
NM_007300.4:c.4548-1_4738+2del
NR_027676.2:n.4662-1_4852+2del