Canonical Allele Identifier: CA10589689

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266449
• ClinVar RCV Id: RCV000257422
• dbSNP Id: rs886040207
• MyVariant Identifiers: chr17:g.41243019del (hg19) ; chr17:g.43091002del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091002del , CM000679.2:g.43091002del	GRCh38
NC_000017.10:g.41243019del , CM000679.1:g.41243019del	GRCh37
NC_000017.9:g.38496545del	NCBI36
NG_005905.2:g.126982del , LRG_292:g.126982del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4127del	ENSP00000417241.2:p.Thr1376LysfsTer17
ENST00000470026.6:c.4127del	ENSP00000419274.2:p.Thr1376LysfsTer17
ENST00000473961.6:c.4001del	ENSP00000420201.2:p.Thr1334LysfsTer17
ENST00000476777.6:c.4124del	ENSP00000417554.2:p.Thr1375LysfsTer17
ENST00000477152.6:c.4049del	ENSP00000419988.2:p.Thr1350LysfsTer17
ENST00000478531.6:c.815del	ENSP00000420412.2:p.Thr272LysfsTer17
ENST00000489037.2:c.4049del	ENSP00000420781.2:p.Thr1350LysfsTer17
ENST00000493919.6:c.677del	ENSP00000418819.2:p.Thr226LysfsTer17
ENST00000494123.6:c.4127del	ENSP00000419103.2:p.Thr1376LysfsTer17
ENST00000497488.2:c.3239del	ENSP00000418986.2:p.Thr1080LysfsTer17
ENST00000618469.2:c.4127del	ENSP00000478114.2:p.Thr1376LysfsTer17
ENST00000634433.2:c.4004del	ENSP00000489431.2:p.Thr1335LysfsTer17
ENST00000644379.2:c.4127del	ENSP00000496570.2:p.Thr1376LysfsTer17
ENST00000644555.2:c.677del	ENSP00000494614.2:p.Thr226LysfsTer17
ENST00000652672.2:c.3986del	ENSP00000498906.2:p.Thr1329LysfsTer17
ENST00000484087.6:c.695del	ENSP00000419481.2:p.Thr232LysfsTer17
ENST00000700182.1:c.737del	ENSP00000514849.1:p.Thr246LysfsTer17
ENST00000357654.9:c.4127del MANE Select	ENSP00000350283.3:p.Thr1376LysfsTer17
ENST00000471181.7:c.4127del	ENSP00000418960.2:p.Thr1376LysfsTer17
ENST00000644379.1:c.448del
ENST00000352993.7:c.701del	ENSP00000312236.5:p.Thr234LysfsTer17
ENST00000357654.7:c.4127del	ENSP00000350283.3:p.Thr1376LysfsTer17
ENST00000461221.5:c.*3910del	ENSP00000418548.1:n.*3910del
ENST00000461574.1:c.421del
ENST00000468300.5:c.818del	ENSP00000417148.1:p.Thr273LysfsTer17
ENST00000471181.6:c.4127del	ENSP00000418960.2:p.Thr1376LysfsTer17
ENST00000478531.5:c.815del	ENSP00000420412.1:p.Thr272LysfsTer17
ENST00000484087.5:c.440del	ENSP00000419481.1:p.Thr147LysfsTer17
ENST00000487825.5:c.443del	ENSP00000418212.1:p.Thr148LysfsTer17
ENST00000491747.6:c.818del	ENSP00000420705.2:p.Thr273LysfsTer17
ENST00000493795.5:c.3986del	ENSP00000418775.1:p.Thr1329LysfsTer17
ENST00000493919.5:c.677del	ENSP00000418819.1:p.Thr226LysfsTer17
ENST00000586385.5:c.5-27051del	ENSP00000465818.1:n.5-27051del
ENST00000591534.5:c.-43-16481del	ENSP00000467329.1:n.-43-16481del
ENST00000591849.5:c.-99+34269del	ENSP00000465347.1:n.-99+34269del
NM_007294.3:c.4127del , LRG_292t1:c.4127del	NP_009225.1:p.Thr1376LysfsTer17
NM_007297.3:c.3986del	NP_009228.2:p.Thr1329LysfsTer17
NM_007298.3:c.818del	NP_009229.2:p.Thr273LysfsTer17
NM_007299.3:c.818del	NP_009230.2:p.Thr273LysfsTer17
NM_007300.3:c.4127del	NP_009231.2:p.Thr1376LysfsTer17
NR_027676.1:n.4263del
NM_007294.4:c.4127del MANE Select	NP_009225.1:p.Thr1376LysfsTer17
NM_007297.4:c.3986del	NP_009228.2:p.Thr1329LysfsTer17
NM_007299.4:c.818del	NP_009230.2:p.Thr273LysfsTer17
NM_007300.4:c.4127del	NP_009231.2:p.Thr1376LysfsTer17
NR_027676.2:n.4304del