Canonical Allele Identifier: CA10602598

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 267615
• ClinVar RCV Id: RCV001378600
• dbSNP Id: rs1555592870
• MyVariant Identifiers: chr17:g.41246647_41247092del (hg19) ; chr17:g.43094630_43095075del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094634_43095079del , CM000679.2:g.43094634_43095079del	GRCh38
NC_000017.10:g.41246651_41247096del , CM000679.1:g.41246651_41247096del	GRCh37
NC_000017.9:g.38500177_38500622del	NCBI36
NG_005905.2:g.122909_123354del , LRG_292:g.122909_123354del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.735-215_965del
ENST00000461574.2:c.671-215_901del
ENST00000470026.6:c.671-215_901del
ENST00000473961.6:c.545-215_775del
ENST00000476777.6:c.668-215_898del
ENST00000477152.6:c.593-215_823del
ENST00000478531.6:c.668-215_784+114del
ENST00000489037.2:c.593-215_823del
ENST00000493919.6:c.530-215_646+114del
ENST00000494123.6:c.671-215_901del
ENST00000497488.2:c.-218-215_13del
ENST00000618469.2:c.671-215_901del
ENST00000634433.2:c.548-215_778del
ENST00000644379.2:c.671-215_901del
ENST00000644555.2:c.530-215_646+114del
ENST00000652672.2:c.530-215_760del
ENST00000484087.6:c.548-215_664+114del
ENST00000700182.1:c.590-215_706+114del
ENST00000700183.1:c.*679-215_*909del
ENST00000357654.9:c.671-215_901del
ENST00000471181.7:c.671-215_901del
ENST00000642945.1:c.*545-215_*775del
ENST00000652672.1:c.530-215_760del
ENST00000352993.7:c.670+771_670+1216del	ENSP00000312236.5:n.670+771_670+1216del
ENST00000354071.7:c.671-215_901del
ENST00000357654.7:c.671-215_901del
ENST00000412061.3:c.22-215_252del
ENST00000461221.5:c.*454-215_*684del
ENST00000468300.5:c.671-215_787+114del
ENST00000470026.5:c.671-215_901del
ENST00000471181.6:c.671-215_901del
ENST00000473961.5:c.268-215_498del
ENST00000477152.5:c.593-215_823del
ENST00000478531.5:c.668-215_784+114del
ENST00000484087.5:c.293-215_409+114del
ENST00000487825.5:c.296-215_412+114del
ENST00000491747.6:c.671-215_787+114del
ENST00000492859.5:c.*607-215_*837del
ENST00000493795.5:c.530-215_760del
ENST00000493919.5:c.530-215_646+114del
ENST00000494123.5:c.671-215_901del
ENST00000497488.1:c.-218-215_13del
ENST00000586385.5:c.4+30107_4+30552del	ENSP00000465818.1:n.4+30107_4+30552del
ENST00000591534.5:c.-43-20554_-43-20109del	ENSP00000467329.1:n.-43-20554_-43-20109de...
ENST00000591849.5:c.-99+30196_-99+30641del	ENSP00000465347.1:n.-99+30196_-99+30641de...
ENST00000634433.1:c.548-215_778del
NM_007294.3:c.671-215_901del , LRG_292t1:c.671-215_901del
NM_007297.3:c.530-215_760del
NM_007298.3:c.671-215_787+114del
NM_007299.3:c.671-215_787+114del
NM_007300.3:c.671-215_901del
NR_027676.1:n.807-215_1037del
NM_007294.4:c.671-215_901del
NM_007297.4:c.530-215_760del
NM_007299.4:c.671-215_787+114del
NM_007300.4:c.671-215_901del
NR_027676.2:n.848-215_1078del