Canonical Allele Identifier: CA002702

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55136
• ClinVar RCV Id: RCV000112292 ; RCV001022019
• dbSNP Id: rs80357649
• MyVariant Identifiers: chr17:g.41234582_41234583del (hg19) ; chr17:g.43082565_43082566del (hg38)
• PubMed: PMID:12955716

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082565_43082566del , CM000679.2:g.43082565_43082566del	GRCh38
NC_000017.10:g.41234582_41234583del , CM000679.1:g.41234582_41234583del	GRCh37
NC_000017.9:g.38488108_38488109del	NCBI36
NG_005905.2:g.135418_135419del , LRG_292:g.135418_135419del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4195_4196del	ENSP00000417241.2:p.Thr1399HisfsTer4
ENST00000470026.6:c.4195_4196del	ENSP00000419274.2:p.Thr1399HisfsTer4
ENST00000473961.6:c.4069_4070del	ENSP00000420201.2:p.Thr1357HisfsTer4
ENST00000476777.6:c.4189_4190del	ENSP00000417554.2:p.Thr1397HisfsTer4
ENST00000477152.6:c.4117_4118del	ENSP00000419988.2:p.Thr1373HisfsTer4
ENST00000478531.6:c.883_884del	ENSP00000420412.2:p.Thr295HisfsTer4
ENST00000489037.2:c.4117_4118del	ENSP00000420781.2:p.Thr1373HisfsTer4
ENST00000493919.6:c.745_746del	ENSP00000418819.2:p.Thr249HisfsTer4
ENST00000494123.6:c.4195_4196del	ENSP00000419103.2:p.Thr1399HisfsTer4
ENST00000497488.2:c.3307_3308del	ENSP00000418986.2:p.Thr1103HisfsTer4
ENST00000618469.2:c.4195_4196del	ENSP00000478114.2:p.Thr1399HisfsTer4
ENST00000634433.2:c.4072_4073del	ENSP00000489431.2:p.Thr1358HisfsTer4
ENST00000644379.2:c.4195_4196del	ENSP00000496570.2:p.Thr1399HisfsTer4
ENST00000644555.2:c.745_746del	ENSP00000494614.2:p.Thr249HisfsTer4
ENST00000652672.2:c.4054_4055del	ENSP00000498906.2:p.Thr1352HisfsTer4
ENST00000484087.6:c.760_761del	ENSP00000419481.2:p.Thr254HisfsTer4
ENST00000700182.1:c.805_806del	ENSP00000514849.1:p.Thr269HisfsTer4
ENST00000357654.9:c.4195_4196del MANE Select	ENSP00000350283.3:p.Thr1399HisfsTer4
ENST00000471181.7:c.4195_4196del	ENSP00000418960.2:p.Thr1399HisfsTer4
ENST00000644379.1:c.516_517del
ENST00000352993.7:c.769_770del	ENSP00000312236.5:p.Thr257HisfsTer4
ENST00000357654.7:c.4195_4196del	ENSP00000350283.3:p.Thr1399HisfsTer4
ENST00000461221.5:c.*3978_*3979del	ENSP00000418548.1:n.*3978_*3979del
ENST00000461574.1:c.489_490del
ENST00000468300.5:c.886_887del	ENSP00000417148.1:p.Thr296HisfsTer4
ENST00000471181.6:c.4195_4196del	ENSP00000418960.2:p.Thr1399HisfsTer4
ENST00000478531.5:c.883_884del	ENSP00000420412.1:p.Thr295HisfsTer4
ENST00000484087.5:c.508_509del	ENSP00000419481.1:p.Thr170HisfsTer4
ENST00000487825.5:c.511_512del	ENSP00000418212.1:p.Thr171HisfsTer4
ENST00000491747.6:c.886_887del	ENSP00000420705.2:p.Thr296HisfsTer4
ENST00000493795.5:c.4054_4055del	ENSP00000418775.1:p.Thr1352HisfsTer4
ENST00000493919.5:c.745_746del	ENSP00000418819.1:p.Thr249HisfsTer4
ENST00000586385.5:c.5-18615_5-18614del	ENSP00000465818.1:n.5-18615_5-18614del
ENST00000591534.5:c.-43-8045_-43-8044del	ENSP00000467329.1:n.-43-8045_-43-8044del
ENST00000591849.5:c.-98-32376_-98-32375del	ENSP00000465347.1:n.-98-32376_-98-32375de...
ENST00000621897.1:n.89_90del
NM_007294.3:c.4195_4196del , LRG_292t1:c.4195_4196del	NP_009225.1:p.Thr1399HisfsTer4
NM_007297.3:c.4054_4055del	NP_009228.2:p.Thr1352HisfsTer4
NM_007298.3:c.886_887del	NP_009229.2:p.Thr296HisfsTer4
NM_007299.3:c.886_887del	NP_009230.2:p.Thr296HisfsTer4
NM_007300.3:c.4195_4196del	NP_009231.2:p.Thr1399HisfsTer4
NR_027676.1:n.4331_4332del
NM_007294.4:c.4195_4196del MANE Select	NP_009225.1:p.Thr1399HisfsTer4
NM_007297.4:c.4054_4055del	NP_009228.2:p.Thr1352HisfsTer4
NM_007299.4:c.886_887del	NP_009230.2:p.Thr296HisfsTer4
NM_007300.4:c.4195_4196del	NP_009231.2:p.Thr1399HisfsTer4
NR_027676.2:n.4372_4373del