Canonical Allele Identifier: CA2260783830

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093321_43093322delinsGT , CM000679.2:g.43093321_43093322delinsGT	GRCh38
NC_000017.10:g.41245338_41245339delinsGT , CM000679.1:g.41245338_41245339delinsGT	GRCh37
NC_000017.9:g.38498864_38498865delinsGT	NCBI36
NG_005905.2:g.124662_124663delinsAC , LRG_292:g.124662_124663delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2273_2274delinsAC
ENST00000461574.2:c.2209_2210delinsAC	ENSP00000417241.2:p.Thr737=
ENST00000470026.6:c.2209_2210delinsAC	ENSP00000419274.2:p.Thr737=
ENST00000473961.6:c.2083_2084delinsAC	ENSP00000420201.2:p.Thr695=
ENST00000476777.6:c.2206_2207delinsAC	ENSP00000417554.2:p.Thr736=
ENST00000477152.6:c.2131_2132delinsAC	ENSP00000419988.2:p.Thr711=
ENST00000478531.6:c.784+1422_784+1423delinsAC	ENSP00000420412.2:n.784+1422_784+1423delinsAC
ENST00000489037.2:c.2131_2132delinsAC	ENSP00000420781.2:p.Thr711=
ENST00000493919.6:c.646+1422_646+1423delinsAC	ENSP00000418819.2:n.646+1422_646+1423delinsAC
ENST00000494123.6:c.2209_2210delinsAC	ENSP00000419103.2:p.Thr737=
ENST00000497488.2:c.1321_1322delinsAC	ENSP00000418986.2:p.Thr441=
ENST00000618469.2:c.2209_2210delinsAC	ENSP00000478114.2:p.Thr737=
ENST00000634433.2:c.2086_2087delinsAC	ENSP00000489431.2:p.Thr696=
ENST00000644379.2:c.2209_2210delinsAC	ENSP00000496570.2:p.Thr737=
ENST00000644555.2:c.646+1422_646+1423delinsAC	ENSP00000494614.2:n.646+1422_646+1423delinsAC
ENST00000652672.2:c.2068_2069delinsAC	ENSP00000498906.2:p.Thr690=
ENST00000484087.6:c.664+1422_664+1423delinsAC	ENSP00000419481.2:n.664+1422_664+1423delinsAC
ENST00000700182.1:c.706+1422_706+1423delinsAC	ENSP00000514849.1:n.706+1422_706+1423delinsAC
ENST00000357654.9:c.2209_2210delinsAC MANE Select	ENSP00000350283.3:p.Thr737=
ENST00000471181.7:c.2209_2210delinsAC	ENSP00000418960.2:p.Thr737=
ENST00000352993.7:c.671-2290_671-2289delinsAC	ENSP00000312236.5:n.671-2290_671-2289delinsAC
ENST00000354071.7:c.2209_2210delinsAC	ENSP00000326002.7:p.Thr737=
ENST00000357654.7:c.2209_2210delinsAC	ENSP00000350283.3:p.Thr737=
ENST00000461221.5:c.*1992_*1993delinsAC	ENSP00000418548.1:n.*1992_*1993delinsAC
ENST00000468300.5:c.787+1422_787+1423delinsAC	ENSP00000417148.1:n.787+1422_787+1423delinsAC
ENST00000471181.6:c.2209_2210delinsAC	ENSP00000418960.2:p.Thr737=
ENST00000478531.5:c.784+1422_784+1423delinsAC	ENSP00000420412.1:n.784+1422_784+1423delinsAC
ENST00000484087.5:c.409+1422_409+1423delinsAC	ENSP00000419481.1:n.409+1422_409+1423delinsAC
ENST00000487825.5:c.412+1422_412+1423delinsAC	ENSP00000418212.1:n.412+1422_412+1423delinsAC
ENST00000491747.6:c.787+1422_787+1423delinsAC	ENSP00000420705.2:n.787+1422_787+1423delinsAC
ENST00000493795.5:c.2068_2069delinsAC	ENSP00000418775.1:p.Thr690=
ENST00000493919.5:c.646+1422_646+1423delinsAC	ENSP00000418819.1:n.646+1422_646+1423delinsAC
ENST00000586385.5:c.5-29371_5-29370delinsAC	ENSP00000465818.1:n.5-29371_5-29370delinsAC
ENST00000591534.5:c.-43-18801_-43-18800delinsAC	ENSP00000467329.1:n.-43-18801_-43-18800delinsAC
ENST00000591849.5:c.-99+31949_-99+31950delinsAC	ENSP00000465347.1:n.-99+31949_-99+31950delinsAC
ENST00000634433.1:c.2086_2087delinsAC	ENSP00000489431.1:p.Thr696=
NM_007294.3:c.2209_2210delinsAC , LRG_292t1:c.2209_2210delinsAC	NP_009225.1:p.Thr737=
NM_007297.3:c.2068_2069delinsAC	NP_009228.2:p.Thr690=
NM_007298.3:c.787+1422_787+1423delinsAC	NP_009229.2:n.787+1422_787+1423delinsAC
NM_007299.3:c.787+1422_787+1423delinsAC	NP_009230.2:n.787+1422_787+1423delinsAC
NM_007300.3:c.2209_2210delinsAC	NP_009231.2:p.Thr737=
NR_027676.1:n.2345_2346delinsAC
NM_007294.4:c.2209_2210delinsAC MANE Select	NP_009225.1:p.Thr737=
NM_007297.4:c.2068_2069delinsAC	NP_009228.2:p.Thr690=
NM_007299.4:c.787+1422_787+1423delinsAC	NP_009230.2:n.787+1422_787+1423delinsAC
NM_007300.4:c.2209_2210delinsAC	NP_009231.2:p.Thr737=
NR_027676.2:n.2386_2387delinsAC