Canonical Allele Identifier: CA658825012

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548194
• ClinVar RCV Id: RCV000661005
• dbSNP Id: rs1555581882
• MyVariant Identifiers: chr17:g.41226412_41226413insGG (hg19) ; chr17:g.43074395_43074396insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074395_43074396insGG , CM000679.2:g.43074395_43074396insGG	GRCh38
NC_000017.10:g.41226412_41226413insGG , CM000679.1:g.41226412_41226413insGG	GRCh37
NC_000017.9:g.38479938_38479939insGG	NCBI36
NG_005905.2:g.143588_143589insCC , LRG_292:g.143588_143589insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4607_4608insCC	ENSP00000417241.2:p.Gln1536HisfsTer12
ENST00000470026.6:c.4610_4611insCC	ENSP00000419274.2:p.Gln1537HisfsTer12
ENST00000473961.6:c.4484_4485insCC	ENSP00000420201.2:p.Gln1495HisfsTer12
ENST00000476777.6:c.4604_4605insCC	ENSP00000417554.2:p.Gln1535HisfsTer12
ENST00000477152.6:c.4532_4533insCC	ENSP00000419988.2:p.Gln1511HisfsTer12
ENST00000478531.6:c.1298_1299insCC	ENSP00000420412.2:p.Gln433HisfsTer12
ENST00000489037.2:c.4532_4533insCC	ENSP00000420781.2:p.Gln1511HisfsTer12
ENST00000493919.6:c.1160_1161insCC	ENSP00000418819.2:p.Gln387HisfsTer12
ENST00000494123.6:c.4610_4611insCC	ENSP00000419103.2:p.Gln1537HisfsTer12
ENST00000497488.2:c.3722_3723insCC	ENSP00000418986.2:p.Gln1241HisfsTer12
ENST00000618469.2:c.4610_4611insCC	ENSP00000478114.2:p.Gln1537HisfsTer12
ENST00000634433.2:c.4487_4488insCC	ENSP00000489431.2:p.Gln1496HisfsTer12
ENST00000644379.2:c.4676_4677insCC	ENSP00000496570.2:p.Gln1559HisfsTer12
ENST00000644555.2:c.1160_1161insCC	ENSP00000494614.2:p.Gln387HisfsTer12
ENST00000652672.2:c.4469_4470insCC	ENSP00000498906.2:p.Gln1490HisfsTer12
ENST00000484087.6:c.1172_1173insCC	ENSP00000419481.2:p.Gln391HisfsTer12
ENST00000700182.1:c.1217_1218insCC	ENSP00000514849.1:p.Gln406HisfsTer12
ENST00000357654.9:c.4610_4611insCC MANE Select	ENSP00000350283.3:p.Gln1537HisfsTer12
ENST00000471181.7:c.4673_4674insCC	ENSP00000418960.2:p.Gln1558HisfsTer12
ENST00000644379.1:c.997_998insCC
ENST00000352993.7:c.1184_1185insCC	ENSP00000312236.5:p.Gln395HisfsTer12
ENST00000357654.7:c.4610_4611insCC	ENSP00000350283.3:p.Gln1537HisfsTer12
ENST00000461221.5:c.*4393_*4394insCC	ENSP00000418548.1:n.*4393_*4394insCC
ENST00000468300.5:c.1298_1299insCC	ENSP00000417148.1:p.Gln433HisfsTer12
ENST00000471181.6:c.4673_4674insCC	ENSP00000418960.2:p.Gln1558HisfsTer12
ENST00000478531.5:c.1298_1299insCC	ENSP00000420412.1:p.Gln433HisfsTer12
ENST00000484087.5:c.923_924insCC	ENSP00000419481.1:p.Gln308HisfsTer12
ENST00000491747.6:c.1298_1299insCC	ENSP00000420705.2:p.Gln433HisfsTer12
ENST00000493795.5:c.4469_4470insCC	ENSP00000418775.1:p.Gln1490HisfsTer12
ENST00000493919.5:c.1160_1161insCC	ENSP00000418819.1:p.Gln387HisfsTer12
ENST00000586385.5:c.5-10445_5-10444insCC	ENSP00000465818.1:n.5-10445_5-10444insCC
ENST00000591534.5:c.83_84insCC	ENSP00000467329.1:p.Gln28HisfsTer12
ENST00000591849.5:c.-98-24206_-98-24205insCC	ENSP00000465347.1:n.-98-24206_-98-24205insCC
NM_007294.3:c.4610_4611insCC , LRG_292t1:c.4610_4611insCC	NP_009225.1:p.Gln1537HisfsTer12
NM_007297.3:c.4469_4470insCC	NP_009228.2:p.Gln1490HisfsTer12
NM_007298.3:c.1298_1299insCC	NP_009229.2:p.Gln433HisfsTer12
NM_007299.3:c.1298_1299insCC	NP_009230.2:p.Gln433HisfsTer12
NM_007300.3:c.4673_4674insCC	NP_009231.2:p.Gln1558HisfsTer12
NR_027676.1:n.4746_4747insCC
NM_007294.4:c.4610_4611insCC MANE Select	NP_009225.1:p.Gln1537HisfsTer12
NM_007297.4:c.4469_4470insCC	NP_009228.2:p.Gln1490HisfsTer12
NM_007299.4:c.1298_1299insCC	NP_009230.2:p.Gln433HisfsTer12
NM_007300.4:c.4673_4674insCC	NP_009231.2:p.Gln1558HisfsTer12
NR_027676.2:n.4787_4788insCC