Canonical Allele Identifier: CA002417

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 91614
• ClinVar RCV Id: RCV000077131 ; RCV000123274 ; RCV000218701
• dbSNP Id: rs80357928
• MyVariant Identifiers: chr17:g.41243786_41243787insAA (hg19) ; chr17:g.43091769_43091770insAA (hg38)
• PubMed: PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091769_43091770insAA , CM000679.2:g.43091769_43091770insAA	GRCh38
NC_000017.10:g.41243786_41243787insAA , CM000679.1:g.41243786_41243787insAA	GRCh37
NC_000017.9:g.38497312_38497313insAA	NCBI36
NG_005905.2:g.126214_126215insTT , LRG_292:g.126214_126215insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3825_3826insTT
ENST00000461574.2:c.3761_3762insTT	ENSP00000417241.2:p.Lys1254AsnfsTer2
ENST00000470026.6:c.3761_3762insTT	ENSP00000419274.2:p.Lys1254AsnfsTer2
ENST00000473961.6:c.3635_3636insTT	ENSP00000420201.2:p.Lys1212AsnfsTer2
ENST00000476777.6:c.3758_3759insTT	ENSP00000417554.2:p.Lys1253AsnfsTer2
ENST00000477152.6:c.3683_3684insTT	ENSP00000419988.2:p.Lys1228AsnfsTer2
ENST00000478531.6:c.785-738_785-737insTT	ENSP00000420412.2:n.785-738_785-737insTT
ENST00000489037.2:c.3683_3684insTT	ENSP00000420781.2:p.Lys1228AsnfsTer2
ENST00000493919.6:c.647-738_647-737insTT	ENSP00000418819.2:n.647-738_647-737insTT
ENST00000494123.6:c.3761_3762insTT	ENSP00000419103.2:p.Lys1254AsnfsTer2
ENST00000497488.2:c.2873_2874insTT	ENSP00000418986.2:p.Lys958AsnfsTer2
ENST00000618469.2:c.3761_3762insTT	ENSP00000478114.2:p.Lys1254AsnfsTer2
ENST00000634433.2:c.3638_3639insTT	ENSP00000489431.2:p.Lys1213AsnfsTer2
ENST00000644379.2:c.3761_3762insTT	ENSP00000496570.2:p.Lys1254AsnfsTer2
ENST00000644555.2:c.647-738_647-737insTT	ENSP00000494614.2:n.647-738_647-737insTT
ENST00000652672.2:c.3620_3621insTT	ENSP00000498906.2:p.Lys1207AsnfsTer2
ENST00000484087.6:c.665-738_665-737insTT	ENSP00000419481.2:n.665-738_665-737insTT
ENST00000700182.1:c.707-738_707-737insTT	ENSP00000514849.1:n.707-738_707-737insTT
ENST00000357654.9:c.3761_3762insTT MANE Select	ENSP00000350283.3:p.Lys1254AsnfsTer2
ENST00000471181.7:c.3761_3762insTT	ENSP00000418960.2:p.Lys1254AsnfsTer2
ENST00000644379.1:c.82_83insTT
ENST00000352993.7:c.671-738_671-737insTT	ENSP00000312236.5:n.671-738_671-737insTT
ENST00000354071.7:c.3761_3762insTT	ENSP00000326002.7:p.Lys1254AsnfsTer2
ENST00000357654.7:c.3761_3762insTT	ENSP00000350283.3:p.Lys1254AsnfsTer2
ENST00000461221.5:c.*3544_*3545insTT	ENSP00000418548.1:n.*3544_*3545insTT
ENST00000461574.1:c.55_56insTT
ENST00000468300.5:c.788-738_788-737insTT	ENSP00000417148.1:n.788-738_788-737insTT
ENST00000471181.6:c.3761_3762insTT	ENSP00000418960.2:p.Lys1254AsnfsTer2
ENST00000478531.5:c.785-738_785-737insTT	ENSP00000420412.1:n.785-738_785-737insTT
ENST00000484087.5:c.410-738_410-737insTT	ENSP00000419481.1:n.410-738_410-737insTT
ENST00000487825.5:c.413-738_413-737insTT	ENSP00000418212.1:n.413-738_413-737insTT
ENST00000491747.6:c.788-738_788-737insTT	ENSP00000420705.2:n.788-738_788-737insTT
ENST00000493795.5:c.3620_3621insTT	ENSP00000418775.1:p.Lys1207AsnfsTer2
ENST00000493919.5:c.647-738_647-737insTT	ENSP00000418819.1:n.647-738_647-737insTT
ENST00000586385.5:c.5-27819_5-27818insTT	ENSP00000465818.1:n.5-27819_5-27818insTT
ENST00000591534.5:c.-43-17249_-43-17248insTT	ENSP00000467329.1:n.-43-17249_-43-17248in...
ENST00000591849.5:c.-99+33501_-99+33502insTT	ENSP00000465347.1:n.-99+33501_-99+33502in...
NM_007294.3:c.3761_3762insTT , LRG_292t1:c.3761_3762insTT	NP_009225.1:p.Lys1254AsnfsTer2
NM_007297.3:c.3620_3621insTT	NP_009228.2:p.Lys1207AsnfsTer2
NM_007298.3:c.788-738_788-737insTT	NP_009229.2:n.788-738_788-737insTT
NM_007299.3:c.788-738_788-737insTT	NP_009230.2:n.788-738_788-737insTT
NM_007300.3:c.3761_3762insTT	NP_009231.2:p.Lys1254AsnfsTer2
NR_027676.1:n.3897_3898insTT
NM_007294.4:c.3761_3762insTT MANE Select	NP_009225.1:p.Lys1254AsnfsTer2
NM_007297.4:c.3620_3621insTT	NP_009228.2:p.Lys1207AsnfsTer2
NM_007299.4:c.788-738_788-737insTT	NP_009230.2:n.788-738_788-737insTT
NM_007300.4:c.3761_3762insTT	NP_009231.2:p.Lys1254AsnfsTer2
NR_027676.2:n.3938_3939insTT