Canonical Allele Identifier: CA002854

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55200
• ClinVar RCV Id: RCV000577555 ; RCV000661160
• dbSNP Id: rs397509177
• MyVariant Identifiers: chr17:g.41228542del (hg19) ; chr17:g.43076525del (hg38)
• PubMed: PMID:16026807

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076525del , CM000679.2:g.43076525del	GRCh38
NC_000017.10:g.41228542del , CM000679.1:g.41228542del	GRCh37
NC_000017.9:g.38482068del	NCBI36
NG_005905.2:g.141459del , LRG_292:g.141459del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4444del	ENSP00000417241.2:p.Ser1482ValfsTer22
ENST00000470026.6:c.4447del	ENSP00000419274.2:p.Ser1483ValfsTer22
ENST00000473961.6:c.4321del	ENSP00000420201.2:p.Ser1441ValfsTer22
ENST00000476777.6:c.4441del	ENSP00000417554.2:p.Ser1481ValfsTer22
ENST00000477152.6:c.4369del	ENSP00000419988.2:p.Ser1457ValfsTer22
ENST00000478531.6:c.1135del	ENSP00000420412.2:p.Ser379ValfsTer22
ENST00000489037.2:c.4369del	ENSP00000420781.2:p.Ser1457ValfsTer22
ENST00000493919.6:c.997del	ENSP00000418819.2:p.Ser333ValfsTer22
ENST00000494123.6:c.4447del	ENSP00000419103.2:p.Ser1483ValfsTer22
ENST00000497488.2:c.3559del	ENSP00000418986.2:p.Ser1187ValfsTer22
ENST00000618469.2:c.4447del	ENSP00000478114.2:p.Ser1483ValfsTer22
ENST00000634433.2:c.4324del	ENSP00000489431.2:p.Ser1442ValfsTer22
ENST00000644379.2:c.4513del	ENSP00000496570.2:p.Ser1505ValfsTer22
ENST00000644555.2:c.997del	ENSP00000494614.2:p.Ser333ValfsTer22
ENST00000652672.2:c.4306del	ENSP00000498906.2:p.Ser1436ValfsTer22
ENST00000484087.6:c.1009del	ENSP00000419481.2:p.Ser337ValfsTer22
ENST00000700182.1:c.1054del	ENSP00000514849.1:p.Ser352ValfsTer22
ENST00000357654.9:c.4447del MANE Select	ENSP00000350283.3:p.Ser1483ValfsTer22
ENST00000471181.7:c.4510del	ENSP00000418960.2:p.Ser1504ValfsTer22
ENST00000644379.1:c.834del
ENST00000352993.7:c.1021del	ENSP00000312236.5:p.Ser341ValfsTer22
ENST00000357654.7:c.4447del	ENSP00000350283.3:p.Ser1483ValfsTer22
ENST00000461221.5:c.*4230del	ENSP00000418548.1:n.*4230del
ENST00000468300.5:c.1135del	ENSP00000417148.1:p.Ser379ValfsTer22
ENST00000471181.6:c.4510del	ENSP00000418960.2:p.Ser1504ValfsTer22
ENST00000478531.5:c.1135del	ENSP00000420412.1:p.Ser379ValfsTer22
ENST00000484087.5:c.760del	ENSP00000419481.1:p.Ser254ValfsTer22
ENST00000487825.5:c.763del	ENSP00000418212.1:p.Ser255ValfsTer?
ENST00000491747.6:c.1135del	ENSP00000420705.2:p.Ser379ValfsTer22
ENST00000493795.5:c.4306del	ENSP00000418775.1:p.Ser1436ValfsTer22
ENST00000493919.5:c.997del	ENSP00000418819.1:p.Ser333ValfsTer22
ENST00000586385.5:c.5-12574del	ENSP00000465818.1:n.5-12574del
ENST00000591534.5:c.-43-2004del	ENSP00000467329.1:n.-43-2004del
ENST00000591849.5:c.-98-26335del	ENSP00000465347.1:n.-98-26335del
ENST00000621897.1:n.338del
NM_007294.3:c.4447del , LRG_292t1:c.4447del	NP_009225.1:p.Ser1483ValfsTer22
NM_007297.3:c.4306del	NP_009228.2:p.Ser1436ValfsTer22
NM_007298.3:c.1135del	NP_009229.2:p.Ser379ValfsTer22
NM_007299.3:c.1135del	NP_009230.2:p.Ser379ValfsTer22
NM_007300.3:c.4510del	NP_009231.2:p.Ser1504ValfsTer22
NR_027676.1:n.4583del
NM_007294.4:c.4447del MANE Select	NP_009225.1:p.Ser1483ValfsTer22
NM_007297.4:c.4306del	NP_009228.2:p.Ser1436ValfsTer22
NM_007299.4:c.1135del	NP_009230.2:p.Ser379ValfsTer22
NM_007300.4:c.4510del	NP_009231.2:p.Ser1504ValfsTer22
NR_027676.2:n.4624del