Canonical Allele Identifier: CA2733915963

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154484385

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094597del , CM000679.2:g.43094597del	GRCh38
NC_000017.10:g.41246614del , CM000679.1:g.41246614del	GRCh37
NC_000017.9:g.38500140del	NCBI36
NG_005905.2:g.123388del , LRG_292:g.123388del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.999del
ENST00000461574.2:c.935del	ENSP00000417241.2:p.Gly312AlafsTer2
ENST00000470026.6:c.935del	ENSP00000419274.2:p.Gly312AlafsTer2
ENST00000473961.6:c.809del	ENSP00000420201.2:p.Gly270AlafsTer2
ENST00000476777.6:c.932del	ENSP00000417554.2:p.Gly311AlafsTer2
ENST00000477152.6:c.857del	ENSP00000419988.2:p.Gly286AlafsTer2
ENST00000478531.6:c.784+148del	ENSP00000420412.2:n.784+148del
ENST00000489037.2:c.857del	ENSP00000420781.2:p.Gly286AlafsTer2
ENST00000493919.6:c.646+148del	ENSP00000418819.2:n.646+148del
ENST00000494123.6:c.935del	ENSP00000419103.2:p.Gly312AlafsTer2
ENST00000497488.2:c.47del	ENSP00000418986.2:p.Gly16AlafsTer2
ENST00000618469.2:c.935del	ENSP00000478114.2:p.Gly312AlafsTer2
ENST00000634433.2:c.812del	ENSP00000489431.2:p.Gly271AlafsTer2
ENST00000644379.2:c.935del	ENSP00000496570.2:p.Gly312AlafsTer2
ENST00000644555.2:c.646+148del	ENSP00000494614.2:n.646+148del
ENST00000652672.2:c.794del	ENSP00000498906.2:p.Gly265AlafsTer2
ENST00000484087.6:c.664+148del	ENSP00000419481.2:n.664+148del
ENST00000700182.1:c.706+148del	ENSP00000514849.1:n.706+148del
ENST00000700183.1:c.*943del	ENSP00000514850.1:n.*943del
ENST00000357654.9:c.935del MANE Select	ENSP00000350283.3:p.Gly312AlafsTer2
ENST00000471181.7:c.935del	ENSP00000418960.2:p.Gly312AlafsTer2
ENST00000642945.1:c.*809del	ENSP00000495897.1:n.*809del
ENST00000652672.1:c.794del	ENSP00000498906.1:p.Gly265AlafsTer2
ENST00000352993.7:c.670+1250del	ENSP00000312236.5:n.670+1250del
ENST00000354071.7:c.935del	ENSP00000326002.7:p.Gly312AlafsTer2
ENST00000357654.7:c.935del	ENSP00000350283.3:p.Gly312AlafsTer2
ENST00000412061.3:c.286del
ENST00000461221.5:c.*718del	ENSP00000418548.1:n.*718del
ENST00000468300.5:c.787+148del	ENSP00000417148.1:n.787+148del
ENST00000470026.5:c.935del	ENSP00000419274.1:p.Gly312AlafsTer2
ENST00000471181.6:c.935del	ENSP00000418960.2:p.Gly312AlafsTer2
ENST00000473961.5:c.532del
ENST00000477152.5:c.857del	ENSP00000419988.1:p.Gly286AlafsTer2
ENST00000478531.5:c.784+148del	ENSP00000420412.1:n.784+148del
ENST00000484087.5:c.409+148del	ENSP00000419481.1:n.409+148del
ENST00000487825.5:c.412+148del	ENSP00000418212.1:n.412+148del
ENST00000491747.6:c.787+148del	ENSP00000420705.2:n.787+148del
ENST00000492859.5:c.*871del	ENSP00000420253.1:n.*871del
ENST00000493795.5:c.794del	ENSP00000418775.1:p.Gly265AlafsTer2
ENST00000493919.5:c.646+148del	ENSP00000418819.1:n.646+148del
ENST00000494123.5:c.935del	ENSP00000419103.1:p.Gly312AlafsTer2
ENST00000497488.1:c.47del	ENSP00000418986.1:p.Gly16AlafsTer2
ENST00000586385.5:c.4+30586del	ENSP00000465818.1:n.4+30586del
ENST00000591534.5:c.-43-20075del	ENSP00000467329.1:n.-43-20075del
ENST00000591849.5:c.-99+30675del	ENSP00000465347.1:n.-99+30675del
ENST00000634433.1:c.812del	ENSP00000489431.1:p.Gly271AlafsTer2
NM_007294.3:c.935del , LRG_292t1:c.935del	NP_009225.1:p.Gly312AlafsTer2
NM_007297.3:c.794del	NP_009228.2:p.Gly265AlafsTer2
NM_007298.3:c.787+148del	NP_009229.2:n.787+148del
NM_007299.3:c.787+148del	NP_009230.2:n.787+148del
NM_007300.3:c.935del	NP_009231.2:p.Gly312AlafsTer2
NR_027676.1:n.1071del
NM_007294.4:c.935del MANE Select	NP_009225.1:p.Gly312AlafsTer2
NM_007297.4:c.794del	NP_009228.2:p.Gly265AlafsTer2
NM_007299.4:c.787+148del	NP_009230.2:n.787+148del
NM_007300.4:c.935del	NP_009231.2:p.Gly312AlafsTer2
NR_027676.2:n.1112del