Canonical Allele Identifier: CA2499224631

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1049380
• ClinVar RCV Id: RCV001355409
• dbSNP Id: rs2154565293

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43115724_43115780del , CM000679.2:g.43115724_43115780del	GRCh38
NC_000017.10:g.41267741_41267797del , CM000679.1:g.41267741_41267797del	GRCh37
NC_000017.9:g.38521267_38521323del	NCBI36
NG_005905.2:g.102204_102260del , LRG_292:g.102204_102260del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.145-1_198+2del
ENST00000461574.2:c.81-1_134+2del
ENST00000470026.6:c.81-1_134+2del
ENST00000473961.6:c.81-1_134+2del
ENST00000476777.6:c.81-1_134+2del
ENST00000477152.6:c.81-1_134+2del
ENST00000478531.6:c.81-1_134+2del
ENST00000489037.2:c.81-1_134+2del
ENST00000493919.6:c.-8+8237_-8+8293del	ENSP00000418819.2:n.-8+8237_-8+8293del
ENST00000494123.6:c.81-1_134+2del
ENST00000497488.2:c.-219+9491_-219+9547del	ENSP00000418986.2:n.-219+9491_-219+9547del
ENST00000618469.2:c.81-1_134+2del
ENST00000634433.2:c.81-1_134+2del
ENST00000644379.2:c.81-1_134+2del
ENST00000644555.2:c.-61-1_-8+2del
ENST00000652672.2:c.-61-1_-8+2del
ENST00000484087.6:c.81-1_134+2del
ENST00000700182.1:c.81-1_134+2del
ENST00000700183.1:c.81-1_134+2del
ENST00000700184.1:n.324-1_377+2del
ENST00000700185.1:n.200-1_253+2del
ENST00000357654.9:c.81-1_134+2del
ENST00000471181.7:c.81-1_134+2del
ENST00000642945.1:c.81-1_134+2del
ENST00000644555.1:c.-61-1_-8+2del
ENST00000652672.1:c.-61-1_-8+2del
ENST00000352993.7:c.81-1_134+2del
ENST00000354071.7:c.81-1_134+2del
ENST00000357654.7:c.81-1_134+2del
ENST00000461221.5:c.81-1_134+2del
ENST00000461798.5:c.81-1_134+2del
ENST00000468300.5:c.81-1_134+2del
ENST00000470026.5:c.81-1_134+2del
ENST00000471181.6:c.81-1_134+2del
ENST00000476777.5:c.81-1_134+2del
ENST00000477152.5:c.81-1_134+2del
ENST00000478531.5:c.81-1_134+2del
ENST00000489037.1:c.81-1_134+2del
ENST00000491747.6:c.81-1_134+2del
ENST00000492859.5:c.81-1_134+2del
ENST00000493795.5:c.-8+8237_-8+8293del	ENSP00000418775.1:n.-8+8237_-8+8293del
ENST00000493919.5:c.-8+8237_-8+8293del	ENSP00000418819.1:n.-8+8237_-8+8293del
ENST00000494123.5:c.81-1_134+2del
ENST00000497488.1:c.-219+9491_-219+9547del	ENSP00000418986.1:n.-219+9491_-219+9547del
ENST00000586385.5:c.4+9402_4+9458del	ENSP00000465818.1:n.4+9402_4+9458del
ENST00000591534.5:c.-44+9491_-44+9547del	ENSP00000467329.1:n.-44+9491_-44+9547del
ENST00000591849.5:c.-99+9491_-99+9547del	ENSP00000465347.1:n.-99+9491_-99+9547del
ENST00000634433.1:c.81-1_134+2del
NM_007294.3:c.81-1_134+2del , LRG_292t1:c.81-1_134+2del
NM_007297.3:c.-8+8237_-8+8293del	NP_009228.2:n.-8+8237_-8+8293del
NM_007298.3:c.81-1_134+2del
NM_007299.3:c.81-1_134+2del
NM_007300.3:c.81-1_134+2del
NR_027676.1:n.242-1_295+2del
NM_007294.4:c.81-1_134+2del
NM_007297.4:c.-8+8237_-8+8293del	NP_009228.2:n.-8+8237_-8+8293del
NM_007299.4:c.81-1_134+2del
NM_007300.4:c.81-1_134+2del
NR_027676.2:n.283-1_336+2del