Canonical Allele Identifier: CA2573153996

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1453808
• ClinVar RCV Id: RCV001960501
• dbSNP Id: rs2152561810

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045774del , CM000679.2:g.43045774del	GRCh38
NC_000017.10:g.41197791del , CM000679.1:g.41197791del	GRCh37
NC_000017.9:g.38451317del	NCBI36
NG_005905.2:g.172211del , LRG_292:g.172211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5494del	ENSP00000417241.2:p.Val1832Ter
ENST00000470026.6:c.5497del	ENSP00000419274.2:p.Val1833Ter
ENST00000473961.6:c.5371del	ENSP00000420201.2:p.Val1791Ter
ENST00000476777.6:c.5491del	ENSP00000417554.2:p.Val1831Ter
ENST00000477152.6:c.5419del	ENSP00000419988.2:p.Val1807Ter
ENST00000478531.6:c.2185del	ENSP00000420412.2:p.Val729Ter
ENST00000489037.2:c.5419del	ENSP00000420781.2:p.Val1807Ter
ENST00000493919.6:c.2047del	ENSP00000418819.2:p.Val683Ter
ENST00000494123.6:c.5497del	ENSP00000419103.2:p.Val1833Ter
ENST00000497488.2:c.4609del	ENSP00000418986.2:p.Val1537Ter
ENST00000618469.2:c.5497del	ENSP00000478114.2:p.Val1833Ter
ENST00000634433.2:c.5374del	ENSP00000489431.2:p.Val1792Ter
ENST00000644379.2:c.5563del	ENSP00000496570.2:p.Val1855Ter
ENST00000644555.2:c.2047del	ENSP00000494614.2:p.Val683Ter
ENST00000652672.2:c.5356del	ENSP00000498906.2:p.Val1786Ter
ENST00000484087.6:c.2059del	ENSP00000419481.2:p.Val687Ter
ENST00000700081.1:n.1380del
ENST00000700082.1:n.861del
ENST00000357654.9:c.5497del MANE Select	ENSP00000350283.3:p.Val1833Ter
ENST00000471181.7:c.5560del	ENSP00000418960.2:p.Val1854Ter
ENST00000644379.1:c.1884del
ENST00000352993.7:c.2071del	ENSP00000312236.5:p.Val691Ter
ENST00000357654.7:c.5497del	ENSP00000350283.3:p.Val1833Ter
ENST00000461221.5:c.*5280del	ENSP00000418548.1:n.*5280del
ENST00000468300.5:c.*11del	ENSP00000417148.1:n.*11del
ENST00000471181.6:c.5560del	ENSP00000418960.2:p.Val1854Ter
ENST00000491747.6:c.2185del	ENSP00000420705.2:p.Val729Ter
ENST00000493795.5:c.5356del	ENSP00000418775.1:p.Val1786Ter
ENST00000586385.5:c.427del	ENSP00000465818.1:p.Val143Ter
ENST00000591534.5:c.970del	ENSP00000467329.1:p.Val324Ter
ENST00000591849.5:c.196del	ENSP00000465347.1:p.Val66Ter
NM_007294.3:c.5497del , LRG_292t1:c.5497del	NP_009225.1:p.Val1833Ter
NM_007297.3:c.5356del	NP_009228.2:p.Val1786Ter
NM_007298.3:c.2185del	NP_009229.2:p.Val729Ter
NM_007299.3:c.*11del	NP_009230.2:n.*11del
NM_007300.3:c.5560del	NP_009231.2:p.Val1854Ter
NR_027676.1:n.5633del
NM_007294.4:c.5497del MANE Select	NP_009225.1:p.Val1833Ter
NM_007297.4:c.5356del	NP_009228.2:p.Val1786Ter
NM_007299.4:c.*11del	NP_009230.2:n.*11del
NM_007300.4:c.5560del	NP_009231.2:p.Val1854Ter
NR_027676.2:n.5674del