Canonical Allele Identifier: CA002747

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55160
• ClinVar RCV Id: RCV000577128 ; RCV000661119
• dbSNP Id: rs397509159
• MyVariant Identifiers: chr17:g.41234495_41234496del (hg19) ; chr17:g.43082478_43082479del (hg38)
• PubMed: PMID:8956054

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082478_43082479del , CM000679.2:g.43082478_43082479del	GRCh38
NC_000017.10:g.41234495_41234496del , CM000679.1:g.41234495_41234496del	GRCh37
NC_000017.9:g.38488021_38488022del	NCBI36
NG_005905.2:g.135505_135506del , LRG_292:g.135505_135506del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4282_4283del	ENSP00000417241.2:p.Ser1428LeufsTer7
ENST00000470026.6:c.4282_4283del	ENSP00000419274.2:p.Ser1428LeufsTer7
ENST00000473961.6:c.4156_4157del	ENSP00000420201.2:p.Ser1386LeufsTer7
ENST00000476777.6:c.4276_4277del	ENSP00000417554.2:p.Ser1426LeufsTer7
ENST00000477152.6:c.4204_4205del	ENSP00000419988.2:p.Ser1402LeufsTer7
ENST00000478531.6:c.970_971del	ENSP00000420412.2:p.Ser324LeufsTer7
ENST00000489037.2:c.4204_4205del	ENSP00000420781.2:p.Ser1402LeufsTer7
ENST00000493919.6:c.832_833del	ENSP00000418819.2:p.Ser278LeufsTer7
ENST00000494123.6:c.4282_4283del	ENSP00000419103.2:p.Ser1428LeufsTer7
ENST00000497488.2:c.3394_3395del	ENSP00000418986.2:p.Ser1132LeufsTer7
ENST00000618469.2:c.4282_4283del	ENSP00000478114.2:p.Ser1428LeufsTer7
ENST00000634433.2:c.4159_4160del	ENSP00000489431.2:p.Ser1387LeufsTer7
ENST00000644379.2:c.4282_4283del	ENSP00000496570.2:p.Ser1428LeufsTer7
ENST00000644555.2:c.832_833del	ENSP00000494614.2:p.Ser278LeufsTer7
ENST00000652672.2:c.4141_4142del	ENSP00000498906.2:p.Ser1381LeufsTer7
ENST00000484087.6:c.847_848del	ENSP00000419481.2:p.Ser283LeufsTer7
ENST00000700182.1:c.892_893del	ENSP00000514849.1:p.Ser298LeufsTer7
ENST00000357654.9:c.4282_4283del MANE Select	ENSP00000350283.3:p.Ser1428LeufsTer7
ENST00000471181.7:c.4282_4283del	ENSP00000418960.2:p.Ser1428LeufsTer7
ENST00000644379.1:c.603_604del
ENST00000352993.7:c.856_857del	ENSP00000312236.5:p.Ser286LeufsTer7
ENST00000357654.7:c.4282_4283del	ENSP00000350283.3:p.Ser1428LeufsTer7
ENST00000461221.5:c.*4065_*4066del	ENSP00000418548.1:n.*4065_*4066del
ENST00000461574.1:c.576_577del
ENST00000468300.5:c.973_974del	ENSP00000417148.1:p.Ser325LeufsTer7
ENST00000471181.6:c.4282_4283del	ENSP00000418960.2:p.Ser1428LeufsTer7
ENST00000478531.5:c.970_971del	ENSP00000420412.1:p.Ser324LeufsTer7
ENST00000484087.5:c.595_596del	ENSP00000419481.1:p.Ser199LeufsTer7
ENST00000487825.5:c.598_599del	ENSP00000418212.1:p.Ser200LeufsTer7
ENST00000491747.6:c.973_974del	ENSP00000420705.2:p.Ser325LeufsTer7
ENST00000493795.5:c.4141_4142del	ENSP00000418775.1:p.Ser1381LeufsTer7
ENST00000493919.5:c.832_833del	ENSP00000418819.1:p.Ser278LeufsTer7
ENST00000586385.5:c.5-18528_5-18527del	ENSP00000465818.1:n.5-18528_5-18527del
ENST00000591534.5:c.-43-7958_-43-7957del	ENSP00000467329.1:n.-43-7958_-43-7957del
ENST00000591849.5:c.-98-32289_-98-32288del	ENSP00000465347.1:n.-98-32289_-98-32288de...
ENST00000621897.1:n.176_177del
NM_007294.3:c.4282_4283del , LRG_292t1:c.4282_4283del	NP_009225.1:p.Ser1428LeufsTer7
NM_007297.3:c.4141_4142del	NP_009228.2:p.Ser1381LeufsTer7
NM_007298.3:c.973_974del	NP_009229.2:p.Ser325LeufsTer7
NM_007299.3:c.973_974del	NP_009230.2:p.Ser325LeufsTer7
NM_007300.3:c.4282_4283del	NP_009231.2:p.Ser1428LeufsTer7
NR_027676.1:n.4418_4419del
NM_007294.4:c.4282_4283del MANE Select	NP_009225.1:p.Ser1428LeufsTer7
NM_007297.4:c.4141_4142del	NP_009228.2:p.Ser1381LeufsTer7
NM_007299.4:c.973_974del	NP_009230.2:p.Ser325LeufsTer7
NM_007300.4:c.4282_4283del	NP_009231.2:p.Ser1428LeufsTer7
NR_027676.2:n.4459_4460del