Canonical Allele Identifier: CA2260777975

Gene: BRCA1

Linked Data

• dbSNP Id: rs2053045318

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082438del , CM000679.2:g.43082438del	GRCh38
NC_000017.10:g.41234455del , CM000679.1:g.41234455del	GRCh37
NC_000017.9:g.38487981del	NCBI36
NG_005905.2:g.135547del , LRG_292:g.135547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4324del	ENSP00000417241.2:p.Leu1442CysfsTer13
ENST00000470026.6:c.4324del	ENSP00000419274.2:p.Leu1442CysfsTer14
ENST00000473961.6:c.4198del	ENSP00000420201.2:p.Leu1400CysfsTer14
ENST00000476777.6:c.4318del	ENSP00000417554.2:p.Leu1440CysfsTer14
ENST00000477152.6:c.4246del	ENSP00000419988.2:p.Leu1416CysfsTer14
ENST00000478531.6:c.1012del	ENSP00000420412.2:p.Leu338CysfsTer14
ENST00000489037.2:c.4246del	ENSP00000420781.2:p.Leu1416CysfsTer14
ENST00000493919.6:c.874del	ENSP00000418819.2:p.Leu292CysfsTer14
ENST00000494123.6:c.4324del	ENSP00000419103.2:p.Leu1442CysfsTer14
ENST00000497488.2:c.3436del	ENSP00000418986.2:p.Leu1146CysfsTer14
ENST00000618469.2:c.4324del	ENSP00000478114.2:p.Leu1442CysfsTer14
ENST00000634433.2:c.4201del	ENSP00000489431.2:p.Leu1401CysfsTer14
ENST00000644379.2:c.4324del	ENSP00000496570.2:p.Leu1442CysfsTer?
ENST00000644555.2:c.874del	ENSP00000494614.2:p.Leu292CysfsTer14
ENST00000652672.2:c.4183del	ENSP00000498906.2:p.Leu1395CysfsTer14
ENST00000484087.6:c.889del	ENSP00000419481.2:p.Leu297CysfsTer13
ENST00000700182.1:c.934del	ENSP00000514849.1:p.Leu312CysfsTer13
ENST00000357654.9:c.4324del MANE Select	ENSP00000350283.3:p.Leu1442CysfsTer14
ENST00000471181.7:c.4324del	ENSP00000418960.2:p.Leu1442CysfsTer?
ENST00000644379.1:c.645del
ENST00000352993.7:c.898del	ENSP00000312236.5:p.Leu300CysfsTer14
ENST00000357654.7:c.4324del	ENSP00000350283.3:p.Leu1442CysfsTer14
ENST00000461221.5:c.*4107del	ENSP00000418548.1:n.*4107del
ENST00000461574.1:c.618del
ENST00000468300.5:c.1015del	ENSP00000417148.1:p.Leu339CysfsTer13
ENST00000471181.6:c.4324del	ENSP00000418960.2:p.Leu1442CysfsTer?
ENST00000478531.5:c.1012del	ENSP00000420412.1:p.Leu338CysfsTer14
ENST00000484087.5:c.637del	ENSP00000419481.1:p.Leu213CysfsTer14
ENST00000487825.5:c.640del	ENSP00000418212.1:p.Leu214CysfsTer14
ENST00000491747.6:c.1015del	ENSP00000420705.2:p.Leu339CysfsTer13
ENST00000493795.5:c.4183del	ENSP00000418775.1:p.Leu1395CysfsTer14
ENST00000493919.5:c.874del	ENSP00000418819.1:p.Leu292CysfsTer14
ENST00000586385.5:c.5-18486del	ENSP00000465818.1:n.5-18486del
ENST00000591534.5:c.-43-7916del	ENSP00000467329.1:n.-43-7916del
ENST00000591849.5:c.-98-32247del	ENSP00000465347.1:n.-98-32247del
ENST00000621897.1:n.218del
NM_007294.3:c.4324del , LRG_292t1:c.4324del	NP_009225.1:p.Leu1442CysfsTer14
NM_007297.3:c.4183del	NP_009228.2:p.Leu1395CysfsTer14
NM_007298.3:c.1015del	NP_009229.2:p.Leu339CysfsTer13
NM_007299.3:c.1015del	NP_009230.2:p.Leu339CysfsTer13
NM_007300.3:c.4324del	NP_009231.2:p.Leu1442CysfsTer?
NR_027676.1:n.4460del
NM_007294.4:c.4324del MANE Select	NP_009225.1:p.Leu1442CysfsTer14
NM_007297.4:c.4183del	NP_009228.2:p.Leu1395CysfsTer14
NM_007299.4:c.1015del	NP_009230.2:p.Leu339CysfsTer13
NM_007300.4:c.4324del	NP_009231.2:p.Leu1442CysfsTer?
NR_027676.2:n.4501del