Canonical Allele Identifier: CA2260781942
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091462_43091466delinsCTTGA , CM000679.2:g.43091462_43091466delinsCTTGA GRCh38
NC_000017.10:g.41243479_41243483delinsCTTGA , CM000679.1:g.41243479_41243483delinsCTTGA GRCh37
NC_000017.9:g.38497005_38497009delinsCTTGA NCBI36
NG_005905.2:g.126518_126522delinsTCAAG , LRG_292:g.126518_126522delinsTCAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4129_4133delinsTCAAG
ENST00000461574.2:c.4065_4069delinsTCAAG ENSP00000417241.2:p.Asn1355=
ENST00000470026.6:c.4065_4069delinsTCAAG ENSP00000419274.2:p.Asn1355=
ENST00000473961.6:c.3939_3943delinsTCAAG ENSP00000420201.2:p.Asn1313=
ENST00000476777.6:c.4062_4066delinsTCAAG ENSP00000417554.2:p.Asn1354=
ENST00000477152.6:c.3987_3991delinsTCAAG ENSP00000419988.2:p.Asn1329=
ENST00000478531.6:c.785-434_785-430delinsTCAAG ENSP00000420412.2:n.785-434_785-430delinsTCAAG
ENST00000489037.2:c.3987_3991delinsTCAAG ENSP00000420781.2:p.Asn1329=
ENST00000493919.6:c.647-434_647-430delinsTCAAG ENSP00000418819.2:n.647-434_647-430delinsTCAAG
ENST00000494123.6:c.4065_4069delinsTCAAG ENSP00000419103.2:p.Asn1355=
ENST00000497488.2:c.3177_3181delinsTCAAG ENSP00000418986.2:p.Asn1059=
ENST00000618469.2:c.4065_4069delinsTCAAG ENSP00000478114.2:p.Asn1355=
ENST00000634433.2:c.3942_3946delinsTCAAG ENSP00000489431.2:p.Asn1314=
ENST00000644379.2:c.4065_4069delinsTCAAG ENSP00000496570.2:p.Asn1355=
ENST00000644555.2:c.647-434_647-430delinsTCAAG ENSP00000494614.2:n.647-434_647-430delinsTCAAG
ENST00000652672.2:c.3924_3928delinsTCAAG ENSP00000498906.2:p.Asn1308=
ENST00000484087.6:c.665-434_665-430delinsTCAAG ENSP00000419481.2:n.665-434_665-430delinsTCAAG
ENST00000700182.1:c.707-434_707-430delinsTCAAG ENSP00000514849.1:n.707-434_707-430delinsTCAAG
ENST00000357654.9:c.4065_4069delinsTCAAG MANE Select ENSP00000350283.3:p.Asn1355=
ENST00000471181.7:c.4065_4069delinsTCAAG ENSP00000418960.2:p.Asn1355=
ENST00000644379.1:c.386_390delinsTCAAG
ENST00000352993.7:c.671-434_671-430delinsTCAAG ENSP00000312236.5:n.671-434_671-430delinsTCAAG
ENST00000354071.7:c.4065_4069delinsTCAAG ENSP00000326002.7:p.Asn1355=
ENST00000357654.7:c.4065_4069delinsTCAAG ENSP00000350283.3:p.Asn1355=
ENST00000461221.5:c.*3848_*3852delinsTCAAG ENSP00000418548.1:n.*3848_*3852delinsTCAAG
ENST00000461574.1:c.359_363delinsTCAAG
ENST00000468300.5:c.788-434_788-430delinsTCAAG ENSP00000417148.1:n.788-434_788-430delinsTCAAG
ENST00000471181.6:c.4065_4069delinsTCAAG ENSP00000418960.2:p.Asn1355=
ENST00000478531.5:c.785-434_785-430delinsTCAAG ENSP00000420412.1:n.785-434_785-430delinsTCAAG
ENST00000484087.5:c.410-434_410-430delinsTCAAG ENSP00000419481.1:n.410-434_410-430delinsTCAAG
ENST00000487825.5:c.413-434_413-430delinsTCAAG ENSP00000418212.1:n.413-434_413-430delinsTCAAG
ENST00000491747.6:c.788-434_788-430delinsTCAAG ENSP00000420705.2:n.788-434_788-430delinsTCAAG
ENST00000493795.5:c.3924_3928delinsTCAAG ENSP00000418775.1:p.Asn1308=
ENST00000493919.5:c.647-434_647-430delinsTCAAG ENSP00000418819.1:n.647-434_647-430delinsTCAAG
ENST00000586385.5:c.5-27515_5-27511delinsTCAAG ENSP00000465818.1:n.5-27515_5-27511delinsTCAAG
ENST00000591534.5:c.-43-16945_-43-16941delinsTCAAG ENSP00000467329.1:n.-43-16945_-43-16941delinsTCAAG
ENST00000591849.5:c.-99+33805_-99+33809delinsTCAAG ENSP00000465347.1:n.-99+33805_-99+33809delinsTCAAG
NM_007294.3:c.4065_4069delinsTCAAG , LRG_292t1:c.4065_4069delinsTCAAG NP_009225.1:p.Asn1355=
NM_007297.3:c.3924_3928delinsTCAAG NP_009228.2:p.Asn1308=
NM_007298.3:c.788-434_788-430delinsTCAAG NP_009229.2:n.788-434_788-430delinsTCAAG
NM_007299.3:c.788-434_788-430delinsTCAAG NP_009230.2:n.788-434_788-430delinsTCAAG
NM_007300.3:c.4065_4069delinsTCAAG NP_009231.2:p.Asn1355=
NR_027676.1:n.4201_4205delinsTCAAG
NM_007294.4:c.4065_4069delinsTCAAG MANE Select NP_009225.1:p.Asn1355=
NM_007297.4:c.3924_3928delinsTCAAG NP_009228.2:p.Asn1308=
NM_007299.4:c.788-434_788-430delinsTCAAG NP_009230.2:n.788-434_788-430delinsTCAAG
NM_007300.4:c.4065_4069delinsTCAAG NP_009231.2:p.Asn1355=
NR_027676.2:n.4242_4246delinsTCAAG