Canonical Allele Identifier: CA2260782974

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092478_43092483delinsTTCTCA , CM000679.2:g.43092478_43092483delinsTTCTCA	GRCh38
NC_000017.10:g.41244495_41244500delinsTTCTCA , CM000679.1:g.41244495_41244500delinsTTCTCA	GRCh37
NC_000017.9:g.38498021_38498026delinsTTCTCA	NCBI36
NG_005905.2:g.125501_125506delinsTGAGAA , LRG_292:g.125501_125506delinsTGAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3112_3117delinsTGAGAA
ENST00000461574.2:c.3048_3053delinsTGAGAA	ENSP00000417241.2:p.Asn1016=
ENST00000470026.6:c.3048_3053delinsTGAGAA	ENSP00000419274.2:p.Asn1016=
ENST00000473961.6:c.2922_2927delinsTGAGAA	ENSP00000420201.2:p.Asn974=
ENST00000476777.6:c.3045_3050delinsTGAGAA	ENSP00000417554.2:p.Asn1015=
ENST00000477152.6:c.2970_2975delinsTGAGAA	ENSP00000419988.2:p.Asn990=
ENST00000478531.6:c.785-1451_785-1446delinsTGAGAA	ENSP00000420412.2:n.785-1451_785-1446delinsTGAGAA
ENST00000489037.2:c.2970_2975delinsTGAGAA	ENSP00000420781.2:p.Asn990=
ENST00000493919.6:c.647-1451_647-1446delinsTGAGAA	ENSP00000418819.2:n.647-1451_647-1446delinsTGAGAA
ENST00000494123.6:c.3048_3053delinsTGAGAA	ENSP00000419103.2:p.Asn1016=
ENST00000497488.2:c.2160_2165delinsTGAGAA	ENSP00000418986.2:p.Asn720=
ENST00000618469.2:c.3048_3053delinsTGAGAA	ENSP00000478114.2:p.Asn1016=
ENST00000634433.2:c.2925_2930delinsTGAGAA	ENSP00000489431.2:p.Asn975=
ENST00000644379.2:c.3048_3053delinsTGAGAA	ENSP00000496570.2:p.Asn1016=
ENST00000644555.2:c.647-1451_647-1446delinsTGAGAA	ENSP00000494614.2:n.647-1451_647-1446delinsTGAGAA
ENST00000652672.2:c.2907_2912delinsTGAGAA	ENSP00000498906.2:p.Asn969=
ENST00000484087.6:c.665-1451_665-1446delinsTGAGAA	ENSP00000419481.2:n.665-1451_665-1446delinsTGAGAA
ENST00000700182.1:c.707-1451_707-1446delinsTGAGAA	ENSP00000514849.1:n.707-1451_707-1446delinsTGAGAA
ENST00000357654.9:c.3048_3053delinsTGAGAA MANE Select	ENSP00000350283.3:p.Asn1016=
ENST00000471181.7:c.3048_3053delinsTGAGAA	ENSP00000418960.2:p.Asn1016=
ENST00000352993.7:c.671-1451_671-1446delinsTGAGAA	ENSP00000312236.5:n.671-1451_671-1446delinsTGAGAA
ENST00000354071.7:c.3048_3053delinsTGAGAA	ENSP00000326002.7:p.Asn1016=
ENST00000357654.7:c.3048_3053delinsTGAGAA	ENSP00000350283.3:p.Asn1016=
ENST00000461221.5:c.*2831_*2836delinsTGAGAA	ENSP00000418548.1:n.*2831_*2836delinsTGAGAA
ENST00000468300.5:c.788-1451_788-1446delinsTGAGAA	ENSP00000417148.1:n.788-1451_788-1446delinsTGAGAA
ENST00000471181.6:c.3048_3053delinsTGAGAA	ENSP00000418960.2:p.Asn1016=
ENST00000478531.5:c.785-1451_785-1446delinsTGAGAA	ENSP00000420412.1:n.785-1451_785-1446delinsTGAGAA
ENST00000484087.5:c.410-1451_410-1446delinsTGAGAA	ENSP00000419481.1:n.410-1451_410-1446delinsTGAGAA
ENST00000487825.5:c.413-1451_413-1446delinsTGAGAA	ENSP00000418212.1:n.413-1451_413-1446delinsTGAGAA
ENST00000491747.6:c.788-1451_788-1446delinsTGAGAA	ENSP00000420705.2:n.788-1451_788-1446delinsTGAGAA
ENST00000493795.5:c.2907_2912delinsTGAGAA	ENSP00000418775.1:p.Asn969=
ENST00000493919.5:c.647-1451_647-1446delinsTGAGAA	ENSP00000418819.1:n.647-1451_647-1446delinsTGAGAA
ENST00000586385.5:c.5-28532_5-28527delinsTGAGAA	ENSP00000465818.1:n.5-28532_5-28527delinsTGAGAA
ENST00000591534.5:c.-43-17962_-43-17957delinsTGAGAA	ENSP00000467329.1:n.-43-17962_-43-17957delinsTGAGAA
ENST00000591849.5:c.-99+32788_-99+32793delinsTGAGAA	ENSP00000465347.1:n.-99+32788_-99+32793delinsTGAGAA
NM_007294.3:c.3048_3053delinsTGAGAA , LRG_292t1:c.3048_3053delinsTGAGAA	NP_009225.1:p.Asn1016=
NM_007297.3:c.2907_2912delinsTGAGAA	NP_009228.2:p.Asn969=
NM_007298.3:c.788-1451_788-1446delinsTGAGAA	NP_009229.2:n.788-1451_788-1446delinsTGAGAA
NM_007299.3:c.788-1451_788-1446delinsTGAGAA	NP_009230.2:n.788-1451_788-1446delinsTGAGAA
NM_007300.3:c.3048_3053delinsTGAGAA	NP_009231.2:p.Asn1016=
NR_027676.1:n.3184_3189delinsTGAGAA
NM_007294.4:c.3048_3053delinsTGAGAA MANE Select	NP_009225.1:p.Asn1016=
NM_007297.4:c.2907_2912delinsTGAGAA	NP_009228.2:p.Asn969=
NM_007299.4:c.788-1451_788-1446delinsTGAGAA	NP_009230.2:n.788-1451_788-1446delinsTGAGAA
NM_007300.4:c.3048_3053delinsTGAGAA	NP_009231.2:p.Asn1016=
NR_027676.2:n.3225_3230delinsTGAGAA