Canonical Allele Identifier: CA2260784999

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094514_43094515delinsCT , CM000679.2:g.43094514_43094515delinsCT	GRCh38
NC_000017.10:g.41246531_41246532delinsCT , CM000679.1:g.41246531_41246532delinsCT	GRCh37
NC_000017.9:g.38500057_38500058delinsCT	NCBI36
NG_005905.2:g.123469_123470delinsAG , LRG_292:g.123469_123470delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1080_1081delinsAG
ENST00000461574.2:c.1016_1017delinsAG	ENSP00000417241.2:p.Lys339=
ENST00000470026.6:c.1016_1017delinsAG	ENSP00000419274.2:p.Lys339=
ENST00000473961.6:c.890_891delinsAG	ENSP00000420201.2:p.Lys297=
ENST00000476777.6:c.1013_1014delinsAG	ENSP00000417554.2:p.Lys338=
ENST00000477152.6:c.938_939delinsAG	ENSP00000419988.2:p.Lys313=
ENST00000478531.6:c.784+229_784+230delinsAG	ENSP00000420412.2:n.784+229_784+230delinsAG
ENST00000489037.2:c.938_939delinsAG	ENSP00000420781.2:p.Lys313=
ENST00000493919.6:c.646+229_646+230delinsAG	ENSP00000418819.2:n.646+229_646+230delinsAG
ENST00000494123.6:c.1016_1017delinsAG	ENSP00000419103.2:p.Lys339=
ENST00000497488.2:c.128_129delinsAG	ENSP00000418986.2:p.Lys43=
ENST00000618469.2:c.1016_1017delinsAG	ENSP00000478114.2:p.Lys339=
ENST00000634433.2:c.893_894delinsAG	ENSP00000489431.2:p.Lys298=
ENST00000644379.2:c.1016_1017delinsAG	ENSP00000496570.2:p.Lys339=
ENST00000644555.2:c.646+229_646+230delinsAG	ENSP00000494614.2:n.646+229_646+230delinsAG
ENST00000652672.2:c.875_876delinsAG	ENSP00000498906.2:p.Lys292=
ENST00000484087.6:c.664+229_664+230delinsAG	ENSP00000419481.2:n.664+229_664+230delinsAG
ENST00000700182.1:c.706+229_706+230delinsAG	ENSP00000514849.1:n.706+229_706+230delinsAG
ENST00000700183.1:c.*1024_*1025delinsAG	ENSP00000514850.1:n.*1024_*1025delinsAG
ENST00000357654.9:c.1016_1017delinsAG MANE Select	ENSP00000350283.3:p.Lys339=
ENST00000471181.7:c.1016_1017delinsAG	ENSP00000418960.2:p.Lys339=
ENST00000642945.1:c.*890_*891delinsAG	ENSP00000495897.1:n.*890_*891delinsAG
ENST00000652672.1:c.875_876delinsAG	ENSP00000498906.1:p.Lys292=
ENST00000352993.7:c.670+1331_670+1332delinsAG	ENSP00000312236.5:n.670+1331_670+1332delinsAG
ENST00000354071.7:c.1016_1017delinsAG	ENSP00000326002.7:p.Lys339=
ENST00000357654.7:c.1016_1017delinsAG	ENSP00000350283.3:p.Lys339=
ENST00000412061.3:c.367_368delinsAG
ENST00000461221.5:c.*799_*800delinsAG	ENSP00000418548.1:n.*799_*800delinsAG
ENST00000468300.5:c.787+229_787+230delinsAG	ENSP00000417148.1:n.787+229_787+230delinsAG
ENST00000470026.5:c.1016_1017delinsAG	ENSP00000419274.1:p.Lys339=
ENST00000471181.6:c.1016_1017delinsAG	ENSP00000418960.2:p.Lys339=
ENST00000473961.5:c.613_614delinsAG
ENST00000477152.5:c.938_939delinsAG	ENSP00000419988.1:p.Lys313=
ENST00000478531.5:c.784+229_784+230delinsAG	ENSP00000420412.1:n.784+229_784+230delinsAG
ENST00000484087.5:c.409+229_409+230delinsAG	ENSP00000419481.1:n.409+229_409+230delinsAG
ENST00000487825.5:c.412+229_412+230delinsAG	ENSP00000418212.1:n.412+229_412+230delinsAG
ENST00000491747.6:c.787+229_787+230delinsAG	ENSP00000420705.2:n.787+229_787+230delinsAG
ENST00000492859.5:c.*952_*953delinsAG	ENSP00000420253.1:n.*952_*953delinsAG
ENST00000493795.5:c.875_876delinsAG	ENSP00000418775.1:p.Lys292=
ENST00000493919.5:c.646+229_646+230delinsAG	ENSP00000418819.1:n.646+229_646+230delinsAG
ENST00000494123.5:c.1016_1017delinsAG	ENSP00000419103.1:p.Lys339=
ENST00000497488.1:c.128_129delinsAG	ENSP00000418986.1:p.Lys43=
ENST00000586385.5:c.5-30564_5-30563delinsAG	ENSP00000465818.1:n.5-30564_5-30563delinsAG
ENST00000591534.5:c.-43-19994_-43-19993delinsAG	ENSP00000467329.1:n.-43-19994_-43-19993delinsAG
ENST00000591849.5:c.-99+30756_-99+30757delinsAG	ENSP00000465347.1:n.-99+30756_-99+30757delinsAG
ENST00000634433.1:c.893_894delinsAG	ENSP00000489431.1:p.Lys298=
NM_007294.3:c.1016_1017delinsAG , LRG_292t1:c.1016_1017delinsAG	NP_009225.1:p.Lys339=
NM_007297.3:c.875_876delinsAG	NP_009228.2:p.Lys292=
NM_007298.3:c.787+229_787+230delinsAG	NP_009229.2:n.787+229_787+230delinsAG
NM_007299.3:c.787+229_787+230delinsAG	NP_009230.2:n.787+229_787+230delinsAG
NM_007300.3:c.1016_1017delinsAG	NP_009231.2:p.Lys339=
NR_027676.1:n.1152_1153delinsAG
NM_007294.4:c.1016_1017delinsAG MANE Select	NP_009225.1:p.Lys339=
NM_007297.4:c.875_876delinsAG	NP_009228.2:p.Lys292=
NM_007299.4:c.787+229_787+230delinsAG	NP_009230.2:n.787+229_787+230delinsAG
NM_007300.4:c.1016_1017delinsAG	NP_009231.2:p.Lys339=
NR_027676.2:n.1193_1194delinsAG