Canonical Allele Identifier: CA003777

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 236275
• ClinVar RCV Id: RCV000225464 ; RCV001229247
• dbSNP Id: rs80357642
• MyVariant Identifiers: chr17:g.41276049_41276050dupAA (hg19) ; chr17:g.41276048_41276049insAA (hg19) ; chr17:g.43124032_43124033dupAA (hg38) ; chr17:g.43124031_43124032insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43124032_43124033dup , CM000679.2:g.43124032_43124033dup	GRCh38
NC_000017.10:g.41276049_41276050dup , CM000679.1:g.41276049_41276050dup	GRCh37
NC_000017.9:g.38529575_38529576dup	NCBI36
NG_005905.2:g.93951_93952dup , LRG_292:g.93951_93952dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.128_129dup
ENST00000461574.2:c.64_65dup	ENSP00000417241.2:p.Leu22PhefsTer2
ENST00000470026.6:c.64_65dup	ENSP00000419274.2:p.Leu22PhefsTer2
ENST00000473961.6:c.64_65dup	ENSP00000420201.2:p.Leu22PhefsTer2
ENST00000476777.6:c.64_65dup	ENSP00000417554.2:p.Leu22PhefsTer2
ENST00000477152.6:c.64_65dup	ENSP00000419988.2:p.Leu22PhefsTer2
ENST00000478531.6:c.64_65dup	ENSP00000420412.2:p.Leu22PhefsTer2
ENST00000489037.2:c.64_65dup	ENSP00000420781.2:p.Leu22PhefsTer2
ENST00000493919.6:c.-24_-23dup	ENSP00000418819.2:n.-24_-23dup
ENST00000494123.6:c.64_65dup	ENSP00000419103.2:p.Leu22PhefsTer2
ENST00000497488.2:c.-219+1238_-219+1239dup	ENSP00000418986.2:n.-219+1238_-219+1239dup
ENST00000618469.2:c.64_65dup	ENSP00000478114.2:p.Leu22PhefsTer2
ENST00000634433.2:c.64_65dup	ENSP00000489431.2:p.Leu22PhefsTer2
ENST00000644379.2:c.64_65dup	ENSP00000496570.2:p.Leu22PhefsTer2
ENST00000644555.2:c.-223_-222dup	ENSP00000494614.2:n.-223_-222dup
ENST00000652672.2:c.-197_-196dup	ENSP00000498906.2:n.-197_-196dup
ENST00000484087.6:c.64_65dup	ENSP00000419481.2:p.Leu22PhefsTer2
ENST00000700182.1:c.64_65dup	ENSP00000514849.1:p.Leu22PhefsTer2
ENST00000700183.1:c.64_65dup	ENSP00000514850.1:p.Leu22PhefsTer2
ENST00000700184.1:n.307_308dup
ENST00000700185.1:n.183_184dup
ENST00000700186.1:n.183_184dup
ENST00000357654.9:c.64_65dup MANE Select	ENSP00000350283.3:p.Leu22PhefsTer2
ENST00000471181.7:c.64_65dup	ENSP00000418960.2:p.Leu22PhefsTer2
ENST00000642945.1:c.64_65dup	ENSP00000495897.1:p.Leu22PhefsTer2
ENST00000644555.1:c.-223_-222dup	ENSP00000494614.1:n.-223_-222dup
ENST00000652672.1:c.-197_-196dup	ENSP00000498906.1:n.-197_-196dup
ENST00000352993.7:c.64_65dup	ENSP00000312236.5:p.Leu22PhefsTer2
ENST00000354071.7:c.64_65dup	ENSP00000326002.7:p.Leu22PhefsTer2
ENST00000357654.7:c.64_65dup	ENSP00000350283.3:p.Leu22PhefsTer2
ENST00000461221.5:c.64_65dup	ENSP00000418548.1:p.Leu22PhefsTer2
ENST00000461798.5:c.64_65dup	ENSP00000417988.1:p.Leu22PhefsTer2
ENST00000468300.5:c.64_65dup	ENSP00000417148.1:p.Leu22PhefsTer2
ENST00000470026.5:c.64_65dup	ENSP00000419274.1:p.Leu22PhefsTer2
ENST00000471181.6:c.64_65dup	ENSP00000418960.2:p.Leu22PhefsTer2
ENST00000476777.5:c.64_65dup	ENSP00000417554.1:p.Leu22PhefsTer2
ENST00000477152.5:c.64_65dup	ENSP00000419988.1:p.Leu22PhefsTer2
ENST00000478531.5:c.64_65dup	ENSP00000420412.1:p.Leu22PhefsTer2
ENST00000489037.1:c.64_65dup	ENSP00000420781.1:p.Leu22PhefsTer2
ENST00000491747.6:c.64_65dup	ENSP00000420705.2:p.Leu22PhefsTer2
ENST00000492859.5:c.64_65dup	ENSP00000420253.1:p.Leu22PhefsTer2
ENST00000493795.5:c.-24_-23dup	ENSP00000418775.1:n.-24_-23dup
ENST00000493919.5:c.-24_-23dup	ENSP00000418819.1:n.-24_-23dup
ENST00000494123.5:c.64_65dup	ENSP00000419103.1:p.Leu22PhefsTer2
ENST00000497488.1:c.-219+1238_-219+1239dup	ENSP00000418986.1:n.-219+1238_-219+1239dup
ENST00000586385.5:c.4+1149_4+1150dup	ENSP00000465818.1:n.4+1149_4+1150dup
ENST00000591534.5:c.-44+1238_-44+1239dup	ENSP00000467329.1:n.-44+1238_-44+1239dup
ENST00000591849.5:c.-99+1238_-99+1239dup	ENSP00000465347.1:n.-99+1238_-99+1239dup
ENST00000618469.1:c.64_65dup	ENSP00000478114.1:p.Leu22PhefsTer2
ENST00000634433.1:c.64_65dup	ENSP00000489431.1:p.Leu22PhefsTer2
NM_007294.3:c.64_65dup , LRG_292t1:c.64_65dup	NP_009225.1:p.Leu22PhefsTer2
NM_007297.3:c.-24_-23dup	NP_009228.2:n.-24_-23dup
NM_007298.3:c.64_65dup	NP_009229.2:p.Leu22PhefsTer2
NM_007299.3:c.64_65dup	NP_009230.2:p.Leu22PhefsTer2
NM_007300.3:c.64_65dup	NP_009231.2:p.Leu22PhefsTer2
NR_027676.1:n.225_226dup
NM_007294.4:c.64_65dup MANE Select	NP_009225.1:p.Leu22PhefsTer2
NM_007297.4:c.-24_-23dup	NP_009228.2:n.-24_-23dup
NM_007299.4:c.64_65dup	NP_009230.2:p.Leu22PhefsTer2
NM_007300.4:c.64_65dup	NP_009231.2:p.Leu22PhefsTer2
NR_027676.2:n.266_267dup