Canonical Allele Identifier: CA2260783614

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093119_43093120delinsCT , CM000679.2:g.43093119_43093120delinsCT	GRCh38
NC_000017.10:g.41245136_41245137delinsCT , CM000679.1:g.41245136_41245137delinsCT	GRCh37
NC_000017.9:g.38498662_38498663delinsCT	NCBI36
NG_005905.2:g.124864_124865delinsAG , LRG_292:g.124864_124865delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2475_2476delinsAG
ENST00000461574.2:c.2411_2412delinsAG	ENSP00000417241.2:p.Gln804=
ENST00000470026.6:c.2411_2412delinsAG	ENSP00000419274.2:p.Gln804=
ENST00000473961.6:c.2285_2286delinsAG	ENSP00000420201.2:p.Gln762=
ENST00000476777.6:c.2408_2409delinsAG	ENSP00000417554.2:p.Gln803=
ENST00000477152.6:c.2333_2334delinsAG	ENSP00000419988.2:p.Gln778=
ENST00000478531.6:c.784+1624_784+1625delinsAG	ENSP00000420412.2:n.784+1624_784+1625delinsAG
ENST00000489037.2:c.2333_2334delinsAG	ENSP00000420781.2:p.Gln778=
ENST00000493919.6:c.646+1624_646+1625delinsAG	ENSP00000418819.2:n.646+1624_646+1625delinsAG
ENST00000494123.6:c.2411_2412delinsAG	ENSP00000419103.2:p.Gln804=
ENST00000497488.2:c.1523_1524delinsAG	ENSP00000418986.2:p.Gln508=
ENST00000618469.2:c.2411_2412delinsAG	ENSP00000478114.2:p.Gln804=
ENST00000634433.2:c.2288_2289delinsAG	ENSP00000489431.2:p.Gln763=
ENST00000644379.2:c.2411_2412delinsAG	ENSP00000496570.2:p.Gln804=
ENST00000644555.2:c.646+1624_646+1625delinsAG	ENSP00000494614.2:n.646+1624_646+1625delinsAG
ENST00000652672.2:c.2270_2271delinsAG	ENSP00000498906.2:p.Gln757=
ENST00000484087.6:c.664+1624_664+1625delinsAG	ENSP00000419481.2:n.664+1624_664+1625delinsAG
ENST00000700182.1:c.706+1624_706+1625delinsAG	ENSP00000514849.1:n.706+1624_706+1625delinsAG
ENST00000357654.9:c.2411_2412delinsAG MANE Select	ENSP00000350283.3:p.Gln804=
ENST00000471181.7:c.2411_2412delinsAG	ENSP00000418960.2:p.Gln804=
ENST00000352993.7:c.671-2088_671-2087delinsAG	ENSP00000312236.5:n.671-2088_671-2087delinsAG
ENST00000354071.7:c.2411_2412delinsAG	ENSP00000326002.7:p.Gln804=
ENST00000357654.7:c.2411_2412delinsAG	ENSP00000350283.3:p.Gln804=
ENST00000461221.5:c.*2194_*2195delinsAG	ENSP00000418548.1:n.*2194_*2195delinsAG
ENST00000468300.5:c.787+1624_787+1625delinsAG	ENSP00000417148.1:n.787+1624_787+1625delinsAG
ENST00000471181.6:c.2411_2412delinsAG	ENSP00000418960.2:p.Gln804=
ENST00000478531.5:c.784+1624_784+1625delinsAG	ENSP00000420412.1:n.784+1624_784+1625delinsAG
ENST00000484087.5:c.409+1624_409+1625delinsAG	ENSP00000419481.1:n.409+1624_409+1625delinsAG
ENST00000487825.5:c.412+1624_412+1625delinsAG	ENSP00000418212.1:n.412+1624_412+1625delinsAG
ENST00000491747.6:c.787+1624_787+1625delinsAG	ENSP00000420705.2:n.787+1624_787+1625delinsAG
ENST00000493795.5:c.2270_2271delinsAG	ENSP00000418775.1:p.Gln757=
ENST00000493919.5:c.646+1624_646+1625delinsAG	ENSP00000418819.1:n.646+1624_646+1625delinsAG
ENST00000586385.5:c.5-29169_5-29168delinsAG	ENSP00000465818.1:n.5-29169_5-29168delinsAG
ENST00000591534.5:c.-43-18599_-43-18598delinsAG	ENSP00000467329.1:n.-43-18599_-43-18598delinsAG
ENST00000591849.5:c.-99+32151_-99+32152delinsAG	ENSP00000465347.1:n.-99+32151_-99+32152delinsAG
ENST00000634433.1:c.2288_2289delinsAG	ENSP00000489431.1:p.Gln763=
NM_007294.3:c.2411_2412delinsAG , LRG_292t1:c.2411_2412delinsAG	NP_009225.1:p.Gln804=
NM_007297.3:c.2270_2271delinsAG	NP_009228.2:p.Gln757=
NM_007298.3:c.787+1624_787+1625delinsAG	NP_009229.2:n.787+1624_787+1625delinsAG
NM_007299.3:c.787+1624_787+1625delinsAG	NP_009230.2:n.787+1624_787+1625delinsAG
NM_007300.3:c.2411_2412delinsAG	NP_009231.2:p.Gln804=
NR_027676.1:n.2547_2548delinsAG
NM_007294.4:c.2411_2412delinsAG MANE Select	NP_009225.1:p.Gln804=
NM_007297.4:c.2270_2271delinsAG	NP_009228.2:p.Gln757=
NM_007299.4:c.787+1624_787+1625delinsAG	NP_009230.2:n.787+1624_787+1625delinsAG
NM_007300.4:c.2411_2412delinsAG	NP_009231.2:p.Gln804=
NR_027676.2:n.2588_2589delinsAG