Canonical Allele Identifier: CA003672

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55602
• ClinVar RCV Id: RCV000112684
• dbSNP Id: rs80359883
• MyVariant Identifiers: chr17:g.41197723_41197784del (hg19) ; chr17:g.43045706_43045767del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045706_43045767del , CM000679.2:g.43045706_43045767del	GRCh38
NC_000017.10:g.41197723_41197784del , CM000679.1:g.41197723_41197784del	GRCh37
NC_000017.9:g.38451249_38451310del	NCBI36
NG_005905.2:g.172217_172278del , LRG_292:g.172217_172278del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5500_5561del	ENSP00000417241.2:p.Arg1834ThrfsTer24
ENST00000470026.6:c.5503_5564del	ENSP00000419274.2:p.Arg1835ThrfsTer24
ENST00000473961.6:c.5377_5438del	ENSP00000420201.2:p.Arg1793ThrfsTer24
ENST00000476777.6:c.5497_5558del	ENSP00000417554.2:p.Arg1833ThrfsTer24
ENST00000477152.6:c.5425_5486del	ENSP00000419988.2:p.Arg1809ThrfsTer24
ENST00000478531.6:c.2191_2252del	ENSP00000420412.2:p.Arg731ThrfsTer24
ENST00000489037.2:c.5425_5486del	ENSP00000420781.2:p.Arg1809ThrfsTer24
ENST00000493919.6:c.2053_2114del	ENSP00000418819.2:p.Arg685ThrfsTer24
ENST00000494123.6:c.5503_5564del	ENSP00000419103.2:p.Arg1835ThrfsTer24
ENST00000497488.2:c.4615_4676del	ENSP00000418986.2:p.Arg1539ThrfsTer24
ENST00000618469.2:c.5503_5564del	ENSP00000478114.2:p.Arg1835ThrfsTer24
ENST00000634433.2:c.5380_5441del	ENSP00000489431.2:p.Arg1794ThrfsTer24
ENST00000644379.2:c.5569_5630del	ENSP00000496570.2:p.Arg1857ThrfsTer24
ENST00000644555.2:c.2053_2114del	ENSP00000494614.2:p.Arg685ThrfsTer24
ENST00000652672.2:c.5362_5423del	ENSP00000498906.2:p.Arg1788ThrfsTer24
ENST00000484087.6:c.2065_2126del	ENSP00000419481.2:p.Arg689ThrfsTer24
ENST00000700081.1:n.1386_1447del
ENST00000700082.1:n.867_928del
ENST00000357654.9:c.5503_5564del MANE Select	ENSP00000350283.3:p.Arg1835ThrfsTer24
ENST00000471181.7:c.5566_5627del	ENSP00000418960.2:p.Arg1856ThrfsTer24
ENST00000644379.1:c.1890_1951del
ENST00000352993.7:c.2077_2138del	ENSP00000312236.5:p.Arg693ThrfsTer24
ENST00000357654.7:c.5503_5564del	ENSP00000350283.3:p.Arg1835ThrfsTer24
ENST00000461221.5:c.*5286_*5347del	ENSP00000418548.1:n.*5286_*5347del
ENST00000468300.5:c.*17_*78del	ENSP00000417148.1:n.*17_*78del
ENST00000471181.6:c.5566_5627del	ENSP00000418960.2:p.Arg1856ThrfsTer24
ENST00000491747.6:c.2191_2252del	ENSP00000420705.2:p.Arg731ThrfsTer?
ENST00000493795.5:c.5362_5423del	ENSP00000418775.1:p.Arg1788ThrfsTer24
ENST00000586385.5:c.433_494del	ENSP00000465818.1:p.Arg145ThrfsTer24
ENST00000591534.5:c.976_1037del	ENSP00000467329.1:p.Arg326ThrfsTer24
ENST00000591849.5:c.202_263del	ENSP00000465347.1:p.Arg68ThrfsTer24
NM_007294.3:c.5503_5564del , LRG_292t1:c.5503_5564del	NP_009225.1:p.Arg1835ThrfsTer24
NM_007297.3:c.5362_5423del	NP_009228.2:p.Arg1788ThrfsTer24
NM_007298.3:c.2191_2252del	NP_009229.2:p.Arg731ThrfsTer24
NM_007299.3:c.*17_*78del	NP_009230.2:n.*17_*78del
NM_007300.3:c.5566_5627del	NP_009231.2:p.Arg1856ThrfsTer24
NR_027676.1:n.5639_5700del
NM_007294.4:c.5503_5564del MANE Select	NP_009225.1:p.Arg1835ThrfsTer24
NM_007297.4:c.5362_5423del	NP_009228.2:p.Arg1788ThrfsTer24
NM_007299.4:c.*17_*78del	NP_009230.2:n.*17_*78del
NM_007300.4:c.5566_5627del	NP_009231.2:p.Arg1856ThrfsTer24
NR_027676.2:n.5680_5741del